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Journal of Clinical Immunology

Issue 1/2025

Content (170 Articles)

Non-Skewed X-inactivation Results in NF-κB Essential Modulator (NEMO) Δ-exon 5-autoinflammatory Syndrome (NEMO-NDAS) in a Female with Incontinentia Pigmenti

Jessica Eigemann, Ales Janda, Catharina Schuetz, Min Ae Lee-Kirsch, Ansgar Schulz, Manfred Hoenig, Ingrid Furlan, Eva-Maria Jacobsen, Julia Zinngrebe, Sarah Peters, Cosima Drewes, Reiner Siebert, Eva-Maria Rump, Marita Führer, Myriam Lorenz, Ulrich Pannicke, Uwe Kölsch, Klaus-Michael Debatin, Horst von Bernuth, Klaus Schwarz, Kerstin Felgentreff

Progressive Encephalomyelitis with Rigidity and Myoclonus (PERM) Associated with GlyR Antibody in an APECED Patient

Sebastian Ochoa, Patrick Waters, Eléonore Vieillard, Ariane Soldatos, M Isabel Leite, Michail S Lionakis

Successful Haematopoietic Stem Cell Transplantation for LRBA Deficiency with Fludarabine, Treosulfan, and Thiotepa-Based Conditioning

Bella Shadur, Adeeb NasserEddin, Irina Zaidman, Yael Dinur Schejter, Ehud Even-Or, Yackov Berkun, Isabelle Meyts, Hatem Hmedat, Ashraf Sulaiman, Stuart G. Tangye, Polina Stepensky

Hyperferritinemia Screening to Aid Identification and Differentiation of Patients with Hyperinflammatory Disorders

Hallie A. Carol, Adam S. Mayer, Michael S. Zhang, Vinh Dang, Jemy Varghese, Zachary Martinez, Corinne Schneider, Joy (Elizabeth) Baker, Paul Tsoukas, Edward M. Behrens, Randy Q. Cron, Caroline Diorio, Lauren A. Henderson, Grant Schulert, Pui Lee, Kate F. Kernan, Scott W. Canna

HSCT in a Patient with Cernunnos/XLF Deficiency and Omenn Syndrome

  • Correspondence

Marwa Chbihi, Léa Nabhan, Antoine Pinton, Philippe Drabent, Jean-Pierre de Villartay, Bénédicte Neven

Successful Allogeneic Hematopoietic Cell Transplantation for Patients with IL10RA Deficiency in Japan

Dan Tomomasa, Tasuku Suzuki, Ichiro Takeuchi, Kimitoshi Goto, Shin-Ichiro Hagiwara, Dai Keino, Satoshi Saida, Takashi Ishige, Takahiro Kudo, Katsuhide Eguchi, Masataka Ishimura, Yusuke Matsuda, Taizo Wada, Yoshiya Ito, Motohiro Kato, Yoji Sasahara, Tomohiro Morio, Katsuhiro Arai, Holm H Uhlig, Hirokazu Kanegane

Abnormal Immune Profile in Individuals with Kabuki Syndrome

Margot Comel, Norma Saad, Debapratim Sil, Florence Apparailly, Marjolaine Willems, Farida Djouad, Jean-Christophe Andrau, Claire Lozano, David Genevieve

Successful Long-Term Enzyme Replacement Therapy in a Patient with Delayed-Onset ADA Deficiency

Vasil Toskov, Pawan Bali, Michael S. Hershfield, Stephan Ehl, Carsten Speckmann

Diverse Clinical and Immunological Profiles in Patients with IPEX Syndrome: a Multicenter Analysis from Turkey

Hayrunnisa Bekis Bozkurt, Feyza Bayram Catak, Ali Sahin, Ezgi Yalcin Gungoren, Betul Gemici Karaarslan, Nalan Yakici, Melek Yorgun Altunbas, Mehmet Cihangir Catak, Salim Can, Razin Amirov, Selcen Bozkurt, Necmiye Ozturk, Sevgi Bilgic Eltan, Nurhan Kasap, Fatma Bal Cetinkaya, Fazil Orhan, Mustafa Arga, Ozlem Cavkaytar, Ayca Kiykim, Elif Karakoc-Aydiner, Ahmet Ozen, Safa Baris

Uniparental Disomy of Chromosome 4: A Case of Whole Chromosome UPD Presenting with LRBA Deficiency

  • Research

Bilgesu Ak, Erhan Parıltay, Reyhan Gümüşburun, Ceyda Tunakan Dalgıç, Ayça Aykut, Asude Durmaz, Haluk Akın, Ömür Ardeniz, Bernice Lo

Correction to: A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries

  • Open Access
  • Correction

Aimee Huynh, Paul E Gray, Anna Sullivan, Joseph Mackie, Antoine Guerin, Geetha Rao, Karrnan Pathmanandavel, Erika Della Mina, Georgina Hollway, Matthew Hobbs, Karen Enthoven, Patrick O’Young, Sam McManus, Luke H. Wainwright, Megan Higgins, Fallon Noon, Melanie Wong, Paul Bastard, Qian Zhang, Jean-Laurent Casanova, Kuang-Chih Hsiao, Alberto Pinzon-Charry, Cindy S Ma, Stuart G. Tangye

Machine Learning of Laboratory Data in Predicting 30-Day Mortality for Adult Hemophagocytic Lymphohistiocytosis

Jun Zhou, Mengxiao Xie, Ning Dong, Mingjun Xie, Jingping Liu, Min Wang, Yaman Wang, Hua-Guo Xu

Levels of Natural Antibodies Before and After Immunoglobulin Replacement Treatment Affect the Clinical Phenotype in Common Variable Immunodeficiency

Ioannis Sarrigeorgiou, Gerasimina Tsinti, Fani Kalala, Anastasios Germenis, Matthaios Speletas, Peggy Lymberi

Concomitant Ultrarare Mutations in TLR3 and CTPS2 in a Patient with Severe and Recurrent Respiratory Infections in Early Life

Salim Bougarn, Andrea Guennoun, Taushif Khan, Rafah Mackeh, Mehdi Adeli, Nico Marr

Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia

Francesco Saettini, Fabiola Guerra, Mario Mauri, Claire G. Salter, Margaret P. Adam, David Adams, Emma L. Baple, Estibaliz Barredo, Sanil Bhatia, Arndt Borkhardt, Alfredo Brusco, Cristina Bugarin, Clizia Chinello, Andrew H. Crosby, Precilla D’Souza, Vanna Denti, Grazia Fazio, Silvia Giuliani, Hye Sun Kuehn, Hassan Amel, Asha Elmi, Bernice Lo, Federica Malighetti, Giorgia Mandrile, Andrea Martín-Nalda, Heather C. Mefford, Daniele Moratto, Fatemeh Emam Mousavi, Zoe Nelson, Luis González Gutiérrez-Solana, Ellen Macnamara, Vincent Michaud, Melanie O’Leary, Lisa Pagani, Lisa Pavinato, Patricia VVelez Santamaria, Laura Planas-Serra, Manuel Quadri, Miquel Raspall-Chaure, Stefano Rebellato, Sergio D. Rosenzweig, Agathe Roubertie, Dirk Holzinger, Christin Deal, Catherine Walsh Vockley, Angela Maria Savino, Jennifer L.Stoddard, Holm H. Uhlig, Aurora Pujol, Fulvio Magni, Giuseppe Paglia, Gianni Cazzaniga, Rocco Piazza, Matteo Barberis, Andrea Biondi

Investigation of Transcription Factor and Cytokine Gene Expression Levels in Helper T Cell Subsets Among Turkish Patients Diagnosed with ICF2 (Novel ZBTB24 gene Variant) and ICF3 (CDCA7 Variant) Syndrome

Tugce Duran, Mehmet Ali Karaselek, Serkan Kuccukturk, Yahya Gul, Ali Sahin, Sukru Nail Guner, Sevgi Keles, Ismail Reisli

Characteristics of Endemic Mycoses Talaromyces marneffei Infection Associated with Inborn Errors of Immunity

Shubin Xing, Zhenzhen Zhang, Cong Liu, Wenjing Zhang, Zhiyong Zhang, Xuemei Tang, Yongwen Chen, Wuyang He, Xiaodong Zhao, Yunfei An

Health Care Utilisation in a Cohort of Patients with Primary and Secondary Antibody Deficiency in the United Kingdom

Benjamin Dimbleby, Will Greenway, Siobhan O. Burns, Alex G. Richter, Adrian M. Shields

Novel SAMD9 Variant Causing MIRAGE Syndrome Treated with Subcutaneous Immunoglobulin

Christopher T. Peek, Manuel Silva-Carmona, Alison A. Bertuch, Sarah K. Nicholas, Tiphanie P. Vogel

MDA5 gain-of-function associated with a Glu794del mutation

Callie Wong, Lukas Gerasimavicius, Yanick J. Crow, Carolina Uggenti, Jenny Carmichael, Hayley Lees, Gillian I Rice, Fraser JH Sutherland, Joseph A Marsh

First Brazilian Case Report of Unrelated Patients with Identical ISG15 Mutation

  • Research

Sarah Maria da Silva Napoleao, Ranieri Coelho Salgado, Janaira Fernandes Severo Ferreira, Mayra de Barros Dorna, Thais Costa Lima de Moura, Tábata Takahashi França, Lucila Akune Barreiros, Lillian Nunes Gomes, Antonio Condino-Neto

Granulomas in Common Variable Immunodeficiency Display Different Histopathological Features Compared to Other Granulomatous Diseases

Astrid C. van Stigt, Jan H. von der Thüsen, Dana A. M. Mustafa, Thierry P. P. van den Bosch, Karishma A. Lila, Disha Vadgama, Martin van Hagen, Virgil A. S. H. Dalm, Willem. A. Dik, Hanna IJspeert

Novel Compound Heterozygous Variants in the FAS Gene Lead to Fetal Onset of Autoimmune Lymphoproliferative Syndrome (ALPS)

  • Research

Qi Wu, Bijun Sun, Jia Hou, Xiaoying Hui, Chenghao Wang, Wenjie Wang, Wenjing Ying, Luyao Liu, Li Zhu, Ying Wang, Qifan Li, Meiping Yu, Weitao Zhou, Yao Chen, Bingbing Wu, Jinqiao Sun, Qinhua Zhou, Feng Qian, Xiaochuan Wang

Disseminated Aspergillosis in X-linked Agammaglobulinemia: Beyond the norm

Abarna Thangaraj, Archan Sil, Sumit Goel, Pandiarajan Vignesh, Amit Rawat, Ankur Kumar Jindal

Inborn Errors of Immunity in Pediatric Intensive Care: Prevalence, Characteristics, and Prognosis

Fatih Celmeli, Ayse Oz, Hasan Serdar Kihtir, Ebru Atike Ongun, Aysel Tekmenuray-Unal, Serdar Ceylaner, Ayca Aykut, Sultan Aydin, Safa Baris

Development of an Expert-Based Scoring System for Early Identification of Patients with Inborn Errors of Immunity in Primary Care Settings – the PIDCAP Project

Jacques G. Rivière, Gerard Carot-Sans, Jordi Piera-Jiménez, Sergi de la Torre, Laia Alsina, Ana Mª Bielsa Masdeu, Maria Bosom Diumenjó, Javier Carbone, Carmen Carreras, Angela Deya-Martínez, Romina Dieli-Crimi, María Espiau, Luis Fernández Pereira, I. González, Manel Juan, Pilar LLobet, Andrea Martín-Nalda, Maria Mendez, Olaf Neth, J. Gonzalo Ocejo-Vinyals, Peter Olbrich, J. C. Rodríguez, Carmen Rodríguez-Vigil Iturrate, Carlos Rodrigo, Juan Luis Santos Pérez, Xavier Cos, Xavier Serra-Picamal, Pere Soler-Palacin

Refractory Autoimmune Thrombocytopenia in an Infant with a De Novo TLR7 Gain-of-Function Variant

Surabhi Menon, Diane Maurice, Lauren A. Robinson, Joshua Milner, Virginia Pascual, Carola G. Vinuesa, Shipra Kaicker

The Latin American Society for Immunodeficiencies Registry

Gisela Seminario, Maria Edith Gonzalez-Serrano, Carolina Sanchez Aranda, Anete Sevciovic Grumach, Gesmar Rodrigues Silva Segundo, Lorena Regairaz, Aristoteles Alvares Cardona, Juan Carlos Aldave Becerra, Cecilia Poli, Alejandra King, Fatima Rodrigues Fernandes, Lily Leiva, Jose Luis Franco, Francisco Javier Espinosa-Rosales, Ricardo Sorensen, Beatriz Tavares Costa Carvalho, Liliana Bezrodnik, Antonio Condino-Neto

A Novel Monoallelic Small Deletion Confers Gain-of-Function of STAT1 in a Child with Candidiasis and Mycobacterial Diseases

Héctor Gómez Tello, Miyuki Tsumura, Uriel Pérez Blanco, Carlos Sanchez-Flores, Jacinta Bustamante, Sara Espinosa Padilla, Virginia Lora Téllez, Satoshi Okada, Lizbeth Blancas Galicia

Severe Adverse Reaction to Measles Vaccine Due to Homozygous Mutation in the IFNAR2 Gene: A Case Report and Literature Review

Ghaith Adi, Zaki Obaid, Deema Hassan Hafez, Asrar Mohammed Al Shahrani, Assalh Ali Nahass, Hajer Abu Saud, Faten Ahmed Alkateb

Normalized Interferon Signatures and Clinical Improvements by IFNAR1 Blocking Antibody (Anifrolumab) in Patients with Type I Interferonopathies

Genia Kretzschmar, Laura Piñero Páez, Ziyang Tan, Jun Wang, Laura Gonzalez, Constantin Habimana Mugabo, Anette Johnsson, Yang Chen, Jaromír Mikeš, Tadepally Lakshmikanth, Anna James, Raphaela Goldbach-Mansky, Marie Fischer, Karin Palmblad, Sara Alehashemi, AnnaCarin Horne, Petter Brodin

Dissecting Secondary Immunodeficiency: Identification of Primary Immunodeficiency within B-Cell Lymphoproliferative Disorders

María Palacios-Ortega, Teresa Guerra-Galán, Adolfo Jiménez-Huete, José María García-Aznar, Marc Pérez-Guzmán, Maria Dolores Mansilla-Ruiz, Ángela Villegas Mendiola, Cristina Pérez López, Elsa Mayol Hornero, Alejandro Peixoto Rodriguez, Ascensión Peña Cortijo, Marta Polo Zarzuela, Marta Mateo Morales, Eduardo Anguita Mandly, Maria Cruz Cárdenas, Alejandra Carrero, Carlos Jiménez García, Estefanía Bolaños, Belén Íñigo, Fiorella Medina, Eduardo de la Fuente, Juliana Ochoa-Grullón, Blanca García-Solís, Yolanda García-Carmona, Miguel Fernández-Arquero, Celina Benavente-Cuesta, Rebeca Pérez de Diego, Nicholas Rider, Silvia Sánchez-Ramón

A Non-targeted Proteomics Newborn Screening Platform for Inborn Errors of Immunity

Hirofumi Shibata, Daisuke Nakajima, Ryo Konno, Atsushi Hijikata, Motoko Higashiguchi, Hiroshi Nihira, Saeko Shimodera, Takayuki Miyamoto, Masahiko Nishitani-Isa, Eitaro Hiejima, Kazushi Izawa, Junko Takita, Toshio Heike, Ken Okamura, Hidenori Ohnishi, Masataka Ishimura, Satoshi Okada, Motoi Yamashita, Tomohiro Morio, Hirokazu Kanegane, Kohsuke Imai, Yasuko Nakamura, Shigeaki Nonoyama, Toru Uchiyama, Masafumi Onodera, Ryuta Nishikomori, Osamu Ohara, Yusuke Kawashima, Takahiro Yasumi

Cancer Trends in Inborn Errors of Immunity: A Systematic Review and Meta-Analysis

Saba Fekrvand, Hassan Abolhassani, Zahra Hamidi Esfahani, Najmeh Nameh Goshay Fard, Mahboube Amiri, Helia Salehi, Amir Almasi-Hashiani, Ali Saeedi-Boroujeni, Nazanin Fathi, Maryam Mohtashami, Azadehsadat Razavi, Arash Heidari, Gholamreza Azizi, Shaghayegh Khanmohammadi, Milad Ahangarzadeh, Kiarash Saleki, Gholamreza Hassanpour, Nima Rezaei, Reza Yazdani

Hematopoietic Stem Cell Transplantation for C1q Deficiency: A Study on Behalf of the EBMT Inborn Errors Working Party

Helena Buso, Etai Adam, Peter D. Arkwright, Sagar Bhattad, Amir Ali Hamidieh, Maryam Behfar, Alexandre Belot, Sarah Benezech, Alice Y. Chan, Yanick J. Crow, Christopher C. Dvorak, Aisling M. Flinn, Urvi Kapoor, Arjan Lankester, Masao Kobayashi, Risa Matsumura, Hadi Mottaghipisheh, Satoshi Okada, Marie Ouachee, Nima Parvaneh, Stalin Ramprakash, Prakash Satwani, Samin Sharafian, Clément Triaille, Robert F. Wynn, Nasim Movahedi, Vahid Ziaee, Eleri Williams, Mary Slatter, Andrew R. Gennery

Polysaccharide, Conjugate, and mRNA-based Vaccines are Immunogenic in Patients with Netherton Syndrome

Anouk E. M. Nouwen, Luca M. Zaeck, Renske Schappin, Daryl Geers, Lennert Gommers, Susanne Bogers, Willem A. Dik, Suzanne G. M. A. Pasmans, Corine H. GeurtsvanKessel, Rory D. de Vries, Virgil A. S. H. Dalm

Endophilin A2 Deficiency Impairs Antibody Production in Humans

  • Research

Cybel Mehawej, Eliane Chouery, Roula Farah, Alia Khalil, Setrida El Hachem, Sandra Corbani, Valerie Delague, Issam Mansour, Tarek Najemdeen, Rima Korban, Wissam H. Faour, Gerard Lefranc, Andre Megarbane

A large cohort from an immunology reference center and an algorithm for the follow-up of chronic neutropenia

Canan Caka, Damla Nur Ergenoğlu, Nidanur Sinanoğlu, Ibrahim Cemal Maslak, Hacer Neslihan Bildik, Begüm Çiçek, Saliha Esenboga, Ilhan Tezcan, Deniz Cagdas

Unidentified Fever and Persistent Liver Dysfunction in a Patient with X-Linked Agamaglobulinemia

Yishi Zhang, Lang Yu, Yu Zhang, Xuemei Tang, Xiaodong Zhao, Yunfei An

Outcomes of X-Linked Agammaglobulinaemia Patients

Ben Shillitoe, Jaime S. Rosa Duque, Sophie H. Y. Lai, Tsun Ming Lau, Jeffery C. H. Chan, Helen Bourne, Catherine Stroud, Terry Flood, Matthew Buckland, Winnie Ip, Austen Worth, Scott Hackett, Archana Herwadkar, Tanya Coulter, Catherine Blaney, Stephen Jolles, Tomaz Garcez, Eduardo Moya, Saul Faust, Mark S. Pearce, Yu Lung Lau, Andrew R. Gennery

Correction to: Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye

Baran Erman, Umran Aba, Canberk Ipsir, Damla Pehlivan, Caner Aytekin, Gokhan Cildir, Begum Cicek, Ceren Bozkurt, Sidem Tekeoglu, Melisa Kaya, Cigdem Aydogmus, Funda Cipe, Gulsan Sucak, Sevgi Bilgic Eltan, Ahmet Ozen, Safa Barıs, Elif Karakoc-Aydiner, Ayca Kıykım, Betul Karaatmaca, Hulya Kose, Dilara Fatma Kocacık Uygun, Fatih Celmeli, Tugba Arikoglu, Dilek Ozcan, Ozlem Keskin, Elif Arık, Elif Soyak Aytekin, Mahmut Cesur, Ercan Kucukosmanoglu, Mehmet Kılıc, Mutlu Yuksek, Zafer Bıcakcı, Saliha Esenboga, Deniz Çagdaş Ayvaz, Asena Pınar Sefer, Sukrü Nail Guner, Sevgi Keles, Ismail Reisli, Ugur Musabak, Nazlı Deveci Demirbas, Sule Haskologlu, Sara Sebnem Kilic, Ayse Metin, Figen Dogu, Aydan Ikinciogulları, Ilhan Tezcan

Dupilumab in a 9-week-old with Netherton Syndrome Leads to Deep Symptom Control

Yannik Vollmuth, Narjes Abdulhameed Alelq, Franziska Sattler, Susanne Schmidt, Fabian Hauck

Correction to: DIAPH1-Deficiency is Associated with Major T, NK and ILC Defects in Humans

  • Open Access
  • Correction

Zehra Busra Azizoglu, Royala Babayeva, Zehra Sule Haskologlu, Mustafa Burak Acar, Serife Ayaz-Guner, Fatma Zehra Okus, Mohammad Bilal Alsavaf, Salim Can, Kemal Erdem Basaran, Mehmed Fatih Canatan, Alper Ozcan, Hasret Erkmen, Can Berk Leblebici, Ebru Yilmaz, Musa Karakukcu, Mehmet Kose, Ozlem Canoz, Ahmet Özen, Elif Karakoc-Aydiner, Serdar Ceylaner, Gülsüm Gümüş, Huseyin Per, Hakan Gumus, Halit Canatan, Servet Ozcan, Figen Dogu, Aydan Ikinciogullari, Ekrem Unal, Safa Baris, Ahmet Eken

Expanding the Spectrum of Immune Abnormalities in VICI Syndrome

Erin L. Frost, Laura Lucas Youngblood, Yuki Hammers, Taylor Fitch, Bojana Pencheva, Shanmuganathan Chandrakasan

Similar Kinetics of Pulmonary SARS-CoV-2 Load in Intensive Care Unit Patients with COVID-19 Pneumonia with or Without Autoantibodies Neutralizing Type I Interferons

Valentine Le Stang, Paul Bastard, Elise Langouet, Marc Pineton de Chambrun, Juliette Chommeloux, Adrian Gervais, Lucy Bizien, Anne Puel, Aurélie Cobat, Julien Mayaux, Alexandre Demoule, Jean-Laurent Casanova, David Boutolleau, Alain Combes, Sonia Burrel, Charles-Edouard Luyt

2q33 Deletions Underlying Syndromic and Non-syndromic CTLA4 Deficiency

Charlyne Brakta, Anne-Claude Tabet, Mathilde Puel, Mathilde Pacault, Marie-Claude Stolzenberg, Claire Goudet, Marguerite Merger, Héloïse Reumaux, Nathalie Lambert, Najiba Alioua, Valérie Malan, Sylvain Hanein, Delphine Dupin-Deguine, Emmanuel Treiner, Guillaume Lefèvre, Méryem-Maud Farhat, Luminita Elena Luca, Marguerite Hureaux, Hailun Li, Nora Chelloug, Rabha Dehak, Simon Boussion, Marie Ouachée-Chardin, Nicolas Schleinitz, Wadih Abou Chahla, Vincent Barlogis, Frédéric Vély, Eric Oksenhendler, Pierre Quartier, Marlène Pasquet, Felipe Suarez, Jacinta Bustamante, Bénédicte Neven, Capucine Picard, Frédéric Rieux-Laucat, Jonathan Lévy, Jérémie Rosain

Heterozygous Predicted Loss-of-function Variants of TRAF3 in Patients with Common Variable Immunodeficiency

Blanca Urban, Laura Batlle-Masó, Janire Perurena-Prieto, Marina Garcia-Prat, Alba Parra-Martínez, Aina Aguiló-Cucurull, Mónica Martinez-Gallo, Laith Moushib, María Antolín, Jacques G. Rivière, Pere Soler-Palacin, Romina Dieli-Crimi, Clara Franco-Jarava, Roger Colobran

A Novel Heterozygous NFKB2 Variant in a Multiplex Family with Common Variable Immune Deficiency and Autoantibodies Against Type I IFNs

Alperen Baran, Aysima Atılgan Lülecioğlu, Liwei Gao, Yılmaz Yücehan Yazıcı, Fevzi Demirel, Ayşe Metin, Jean-Laurent Casanova, Anne Puel, Tom Le Voyer, Şengül Beyaz, Serkan Belkaya

Inborn Error of WAS Presenting with SARS-CoV-2-Related Multisystem Inflammatory Syndrome in Children

Enrico Drago, Francesca Fioredda, Federica Penco, Ignazia Prigione, Arinna Bertoni, Genny Del Zotto, Paola Bocca, Erika Massaccesi, Marina Lanciotti, Daniele Moratto, Lorenz Thurner, Roberta Caorsi, Marco Gattorno, Stefano Volpi

Griscelli Syndrome Type 2: Comprehensive Analysis of 149 New and Previously Described Patients with RAB27A Deficiency

Jesmeen Maimaris, Adriel Roa-Bautista, Mahreen Sohail, Claire Booth, Chiara Cugno, Lenka Chenchara, Tawfeg Ben Omran, Yael Hacohen, Ming Lim, Kimberly Gilmour, Gillian Griffiths, Kanchan Rao, Reem Elfeky, Maaike Kusters

Nationwide Survey of Multisystem Inflammatory Syndrome in Children Associated with Coronavirus Disease 2019 in Japan

Daisuke Matsubara, Yuri Matsubara, Mamoru Ayusawa, Hiromichi Hamada, Mitsuru Seki, Hiroyuki Yamagishi, Yoshihide Mitani, Yoshihiro Onouchi, Hiroyuki Moriuchi, Isao Miyairi, Keiko Tanaka-Taya, Tomohiro Katsuta, Hiroshi Kurosawa, Kazunori Aoki, Naoki Shimizu, Yosikazu Nakamura

Restitutio ad integrum: Rescuing the Alveolar Macrophage Function with HSCT in Pulmonary Alveolar Proteinosis Due to CSF2Rα Deficiency

Varsha Mishra-Sopori, Indu Khosla, Sanaa Khan, Darshan Kataria, Pralhad Prabhudesai, Parmarth Chandane, Kunal Sehgal, Minnie Bodhanwala, Ambreen Pandrowala, Prashant Hiwarkar

Molecular and Clinical Characterization of a Founder Mutation Causing G6PC3 Deficiency

Xin Zhen, Michael J. Betti, Meltem Ece Kars, Andrew R. Patterson, Edgar Alejandro Medina-Torres, Selma Cecilia Scheffler Mendoza, Diana Andrea Herrera Sánchez, Gabriela Lopez-Herrera, Yevgeniya Svyryd, Osvaldo M. Mutchinick, Eric R. Gamazon, Jeffrey C. Rathmell, Yuval Itan, Janet Markle, Patricia O’Farrill Romanillos, Saul Oswaldo Lugo-Reyes, Ruben Martinez-Barricarte

Prime Editor Gene Therapy and TREX1 Mosaicism in Retinal Vasculopathy with Cerebral Leukoencephalopathy

Samuel D. Chauvin, Joe A. Holley, Subhajit Poddar, Cathrine A. Miner, Lindsay Kumble, Jiayuan Fu, Hanka Laue-Gizzi, Todd A. Hardy, Jonathan J. Miner

A Novel AGR2 Variant Causing Aberrant Monomer-Dimer Equilibrium Leading to Severe Respiratory and Digestive Symptoms

  • Open Access
  • Research

Sanami Takada, Silvanna Gallo, Sebastian Silva, Hiroki Tanaka, Oscar Pincheira, Juan Zúñiga, Marcela Villarroel, Ximena Hidalgo, Joel Melo-Tanner, Hidefumi Suzuki, Shinichi Machida, Hidehisa Takahashi, Noriko Miyake

Mutational Landscape of Patients with Wiskott Aldrich Syndrome: Update from India

Pallavi Gaikwad, Umair A. Bargir, Neha Jodhawat, Aparna Dalvi, Shweta Shinde, Parag Tamhankar, Priyanka Setia, Priyanka Kambli, Amruta Dhawale, Lavina Temkar, Disha Vedpathak, Amrutha Jose, Maya Gupta, Reetika Yadav-Malik, Shubhankar Dutta, Kokoli Bose, Prasad Taur, Vijaya Gowri, Vaishnavi Iyengar, Akshaya Chougule, Mukesh Desai, Meena Sivasankaran, Sagar Bhattad, Sarath Balaji, Sangeeta Mudaliar, Ashruti Kacha, Girish Subramanian, Swati Patel, Sujata Sharma, Abhilasha Sampagar, Manisha Madkaikar

Recommendations for Transitioning Young People with Primary Immunodeficiency Disorders and Autoinflammatory Diseases to Adult Care

Muskan Israni, Eliska Alderson, Nizar Mahlaoui, Laura Obici, Linda Rossi-Semerano, Helen Lachmann, Mojca Zajc Avramovič, Aurelien Guffroy, Virgil Dalm, Rachel Rimmer, Leire Solis, Carlota Villar, Andrew R. Gennery, Stephanie Skeffington, Julia Nordin, Klaus Warnatz, Anne-Sophie Korganow, Jordi Antón, Marco Cattalini, Stefan Berg, Pere Soler-Palacin, Mari Campbell, Siobhan O. Burns, Ann Gardulf, Anna Sediva, Pere Soler-Palacín, Fabian Hauck, Isabelle Meyts, Filomeen Haerynck, Malgorzata Pac, Margarita Velcheva, Peter Jandus, Martine Pergent, Maria Carrabba, Bénédicte Neven, Luis Ignacio Gonzalez-Granado, Isabelle Meyts, Efimia Alataki-Papadopoulou, Reem Elfeky, Jadranka Kelečić, Jutte van der Werff ten Bosch, Zahir Amoura, Vanda Friman, Carsten Heilmann, Niall Conlan, Kristiina Aalto, Judith Sanchez-Manubens, Vito Sabato, Mikko Seppänen, Xavier Solanich, Antonella Insalaco, Rainald Zeuner, Alberto Tommasini, Elissaveta Naumova, Claudia Blattmann, Mary Slatter, Jiří Litzman, Pierre Philippet, Fabio Candotti, Olov Ekwall, Pavlina Kralickova, Markus Seidel, Clementina Canessa, Rik Schrijvers, Natasha Prescott, Ursula Holzer, Carmen Carreras, Maria Kanariou, Miloš Jeseňák, Constantinos Pitsios, Lisa Devlin, Peter Arkwright, Nico Wulffraat, Charalampia Papadopoulou, Bénédicte Neven, Lucia Baselli, Rosa Maria Dellepiane, Sinisa Savic, Nicholas Brodszki, Laia Alsina, Felipe Suarez, Viviana Moschese, Peter Jandus, Trine Hyrup Mogensen, Bjorn Runar Ludviksson, Elizabeth McDermott, Ruth Fritsch-Stork, Federica Barzaghi, Brindusa Capilna, Marina Folkers, Mary Keogan, Tim Niehues, Benson Ogunjimi, Maria Koliou, Guillaume Lefèvre, Stephen Jolles, Ana Méndez-Echevarría, Ewa Bernatowska, Rosie Hague, Jean-Christophe Goffard, Olivier Gilliaux, Saul Faust, Patricia Luck, Carine Wouters, Suzanne Elcombe, Dirk Holzinger, Maria Carrabba, Manuel Santamaria, Leif Hanitsch, Paul Brogan, Troels Herlin, Horst von Bernuth, Giovanna Fabio, Véronique Hentgen, Hanne Marquart, Susana Lopes da Silva, Terese Katzenstein, Tania Nicole Masmas, Olaf Neth, Filomeen Haerynck, Joke Dehoorne, Tania Amin, Georgia Hayward

Report of the Italian Cohort with Activated Phosphoinositide 3-Kinase δ Syndrome in the Target Therapy Era

Federica Barzaghi, Mattia Moratti, Giuseppina Panza, Beatrice Rivalta, Giuliana Giardino, Antonio De Rosa, Lucia Augusta Baselli, Matteo Chinello, Antonio Marzollo, Davide Montin, Maddalena Marinoni, Giorgio Costagliola, Silvia Ricci, Lorenzo Lodi, Baldassarre Martire, Cinzia Milito, Antonino Trizzino, Alberto Tommasini, Marco Zecca, Raffaele Badolato, Caterina Cancrini, Vassilios Lougaris, Claudio Pignata, Francesca Conti

Outcomes of Hematopoietic Cell Transplantation in Children with Inborn Errors of Immunity: A Single-Center Series

Hasan Hashem, Lubna Ghatasheh, Rula Najjar, Duaa Mufarrej, Duaa Zandaki, Mayada Abu Shanap, Eman Khattab, Rawad Rihani, Iyad Sultan

Anifrolumab in Monogenic Lupus caused by TREX1 Mutation

Patricia Moran-Alvarez, Virginia Messia, Valentina Matteo, Francesca Soscia, Giusi Prencipe, Fabrizio De Benedetti, Antonella Insalaco

Baricitinib-Induced Remission of Alopecia Universalis in a Child with NFKB2-Associated Immune Dysregulation

C. Blokhuis, T.R. Leahy, A.D. Irvine, F. Browne, A.M. Flinn

Quantifying the Diagnostic Odyssey Burden Among Persons with Inborn Errors of Immunity

  • Open Access
  • Research

Sarina Nikzad, Rebekah Johnson, Christopher Scalchunes, Nicholas L. Rider

Novel Inherited N-terminus TAP1 Variants and Severe Clinical Manifestations– Are Genotype-Phenotype Correlations Emerging?

Dharmagat Bhattarai, Aaqib Zaffar Banday, Sheetal Sharda, Pratap Kumar Patra, Jolan E. Walter, Kathleen E. Sullivan

Pre-Transplant Immune Dysregulation Predicts for Poor Outcome Following Allogeneic Haematopoietic Stem Cell Transplantation in Adolescents and Adults with Inborn Errors of Immunity (IEI)

Thomas A. Fox, Valerie Massey, Charley Lever, Rachel Pearce, Arian Laurence, Sarah Grace, Filippo Oliviero, Sarita Workman, Andrew Symes, David M. Lowe, Valeria Fiaccadori, Rachael Hough, Susan Tadros, Siobhan O. Burns, Markus G. Seidel, Ben Carpenter, Emma C. Morris

Outcomes of Hematopoietic Stem Cell Transplantation in 5 Patients with Autosomal Recessive RIPK1-Deficiency

Rebecca B. Walsh, Peter McNaughton, Zohreh Nademi, Alexandra Laberko, Dmitry Balashov, Hamoud Al-Mousa, Peter D. Arkwright, Robert F. Wynn, Terry Flood, Eleri Williams, Andrew Cant, Mario Abinun, Sophie Hambleton, Mary Slatter, Andrew R. Gennery, Su Han Lum, Stephen Owens

Hypomorphic RAG2 Deficiency Promotes Selection of Self-Reactive B Cells

  • Open Access
  • Research

Christopher D. Thouvenel, Christopher M. Tipton, Yasuhiro Yamazaki, Ting-ting Zhang, Stacey Rylaarsdam, Jennifer R. Hom, Catherine Snead, Chengsong Zhu, Quan-Zhen Li, Yu Nee Lee, Tomoki Kawai, Neshatul Haque, Michael T. Zimmermann, Sivasankaran Munusamy Ponnan, Shaun W. Jackson, Rich G. James, Ignacio Sanz, Luigi D. Notarangelo, Troy R. Torgerson, Hans D. Ochs, David J. Rawlings, Eric J. Allenspach

ATM Expression and Activation in Ataxia Telangiectasia Patients with and without Class Switch Recombination Defects

Fereshte Salami, Tannaz Moeini Shad, Nazanin Fathi, Hanieh Mojtahedi, Marzie Esmaeili, Sepideh Shahkarami, Ladan Gol Mohammad Pour Afrakoti, Parisa Amirifar, Samaneh Delavari, Hassan Nosrati, Azadehsadat Razavi, Mohammad Reza Ranjouri, Mahsa Yousefpour, Zahra Hamidi Esfahani, Gholamreza Azizi, Mahmoudreza Ashrafi, Nima Rezaei, Reza Yazdani, Hassan Abolhassani

Hematopoietic Stem Cell Transplantation Corrects IL-2Rβ Deficiency

Fai AlQahtani, Manar AlGhamdi, Mofareh AlZahrani, Anas M. AlAzami, Sultan Al-Buhairi, Hamoud Al-Mousa

Correction to: Quantifying the Diagnostic Odyssey Burden Among Persons with Inborn Errors of Immunity

Sarina Nikzad, Rebekah Johnson, Christopher Scalchunes, Nicholas L. Rider

Correction to: Anifrolumab in Monogenic Lupus caused by TREX1 Mutation

  • Open Access
  • Correction

Patricia Moran‑Alvarez, Virginia Messia, Valentina Matteo, Francesca Soscia, Giusi Prencipe, Fabrizio De Benedetti, Antonella Insalaco

Interstitial Lung Disease in a Girl with Prolidase Deficiency

  • Open Access
  • Correspondence

Chunna Xu, Lei Zhang, Yu Tang, Haiming Yang, Yuelin Shen

Correction to: Dissecting Secondary Immunodeficiency: Identification of Primary Immunodeficiency within B-Cell Lymphoproliferative Disorders

María Palacios-Ortega, Teresa Guerra-Galán, Adolfo Jiménez-Huete, José María García-Aznar, Marc Pérez-Guzmán, Maria Dolores Mansilla-Ruiz, Ángela Villegas Mendiola, Cristina Pérez López, Elsa Mayol Hornero, Alejandro Peixoto Rodriguez, Ascensión Peña Cortijo, Marta Polo Zarzuela, Marta Mateo Morales, Eduardo Anguita Mandly, Maria Cruz Cárdenas, Alejandra Carrero, Carlos Jiménez García, Estefanía Bolaños, Belén Íñigo, Fiorella Medina, Eduardo de la Fuente, Juliana Ochoa-Grullón, Blanca García-Solís, Yolanda García-Carmona, Miguel Fernández-Arquero, Celina Benavente-Cuesta, Rebeca Pérez de Diego, Nicholas Rider, Silvia Sánchez-Ramón

Pulmonary Aspergillosis and Low HIES Score in a Family with STAT3 N-Terminal Domain Mutation

Suiane Lima de Souza, Takaki Asano, Virpi Glumoff, Salla Keskitalo, Keela Pikkarainen, Timi Martelius, Meri Kaustio, Janna Saarela, Outi Kuismin, Elisa Lappi-Blanco, Airi Jartti, Fredrik Yannopoulos, Leena Tiitto, Mikko R. J. Seppänen, Bertrand Boisson, Jean-Laurent Casanova, Markku Varjosalo, Timo Hautala, Zhi Chen

Early Haploidentical Hematopoietic Stem Cell Transplantation Provides Rapid Leukocyte and Immune Reconstitution in AK2 Patient Identified by TREC Newborn Screening

Alphan Cicek, Friedhelm R. Schuster, Janel O. Boyle, Manfred Hoenig, Roland Meisel, Sujal Ghosh

Investigating Chromosomal Radiosensitivity in Inborn Errors of Immunity: Insights from DNA Repair Disorders and Beyond

Elien Beyls, Evi Duthoo, Lynn Backers, Karlien Claes, T. Kerre, B. Lambrecht, L. Hoste, B. Meertens, T. Van Genechten, A. Ferster, K. Vanden Driessche, C. De Vriendt, L. Dedeken, I. Moors, C. Dhooge, L. Kornreich, C. Heijmans, M. Le Roux, M. Colard, A. Van Damme, K. Van Schil, B. De Wilde, Marieke De Bruyne, Lore Pottie, Victoria Bordon, Carolien Bonroy, Simon J. Tavernier, Kathleen B. M. Claes, Anne Vral, Ans Baeyens, Filomeen Haerynck

X-linked Deficiency in ELF4 in Females with Skewed X Chromosome Inactivation

  • Open Access
  • Research

Rongtao Zhao, Zhuo Zhang, Shiyue Mei, Li Sun, Qianlu Zhang, Qianying Lv, Fang Zhou, Gan Sun, Lina Zhou, Xuemei Tang, Yunfei An, Zhifeng Liu, Xiaodong Zhao, Hongqiang Du

Bone Marrow CD8 + Abundance Inversely Correlates with Progressive Marrow Fibrosis and Myelodysplastic Evolution in GATA2 Deficiency: Case Report

Francesca Vendemini, Samuele Roncareggi, Vincenzo L’Imperio, Fabiola Guerra, Federica Mottadelli, Marco Chiarini, Oscar Maglia, Simona Sala, Grazia Fazio, Rocco Piazza, Sonia Bonanomi, Andrea Biondi, Francesco Saettini

Successful Treatment with Sirolimus of a Patient with a Novel CARD11 Germline Mutation in B-Cell Expansion with Nuclear Factor Kappa B and T-Cell Anergy: Case Report and Literature Review

Tsubasa Nishinosono, Hideki Muramatsu, Manabu Wakamatsu, Daiki Yamashita, Tatsuya Fukasawa, Yuichi Shirakawa, Daichi Sajiki, Ryo Maemura, Yusuke Tsumura, Ayako Yamamori, Kotaro Narita, Shinsuke Kataoka, Atsushi Narita, Nobuhiro Nishio, Yuji Miyajima, Yoshiyuki Takahashi

Clinical Characteristics and Outcomes of Pediatric Cases Presenting with Possible Pulmonary Vasculitis Following COVID-19 Infection

Xiaoyan Zhang, Yuhong Guan, Weihan Xu, Shunying Zhao, Haiming Yang

No Association Between HLH-associated Gene Variants and Life-Threatening COVID-19

Laura E. Covill, Aurélie Cobat, Qian Zhang, Yenan T. Bryceson

Efficacy, Safety, Tolerability, and Serum IgG Trough Levels of Hyaluronidase-Facilitated Subcutaneous Immunoglobulin 10% in US Pediatric Patients with Primary Immunodeficiency Diseases

Niraj C. Patel, Jolan E. Walter, Richard L. Wasserman, Arye Rubinstein, Suthida Kankirawatana, Meagan W. Shepherd, Erin Greco, Zhaoyang Li, Sharon Russo-Schwarzbaum, Shumyla Saeed-Khawaja, Barbara McCoy, Leman Yel

Diagnosis, Characteristics, and Outcome of Selective Anti-polysaccharide Antibody Deficiencies In A Retrospective Cohort of 55 Adult Patients

Nicolas Perrard, Sarah Stabler, Sébastien Sanges, Louis Terriou, Catherine Lamblin, Sacha Gaillard, Fanny Vuotto, Cécile Chenivesse, Geoffrey Mortuaire, Frédéric Batteux, Floriane Mirgot, Aurore Collet, Benjamin Lopez, Sylvain Dubucquoi, Myriam Labalette, Eric Hachulla, David Launay, Guillaume Lefèvre

Deficiency of Adenosine Deaminase 2 Masquerading as Behçet’s Disease: Phenotypic Mimicry with HLA-B*51 Positivity

Abdullah Almojali, Abdulrahman Alrasheed, Bushra Alharbi, Reem Alharbi, Wafaa Alsuwairi, Fayhan Alroqi, Jubran Alqanatish

Multi-Year Registry Study of Elapegademase Treatment in Patients With Adenosine Deaminase Severe Combined Immunodeficiency (ADA-SCID) Requiring Enzyme Replacement Therapy

Morna J. Dorsey, Manish J. Butte, Jay A. Lieberman, Heather Lehman, Tracy Fausnight, Michael D. Keller, Caroline Fradette, Michael S. Hershfield, Tamara C. Pozos, Anna Rozova, Luke A. Wall, Jeffrey J. Bednarski, Teresa K. Tarrant, Hey J. Chong, Bob Geng, Noemi Toiber Temin, Susan S. Laubach, Leo Lin, Talal Mousallem, Jolan E. Walter

DOCK2 Deficiency and GATA2 Haploinsufficiency Can Underlie Critical Coronavirus Disease 2019 (COVID-19) Pneumonia

Sajjad Biglari, Leila Youssefian, Mohammad Amin Tabatabaiefar, Amir Hossein Saeidian, Bahareh Abtahi‐Naeini, Erfan Khorram, Roya Sherkat, Atefeh Sohanforooshan Moghaddam, Fatemeh Mohaghegh, Maziyar Rahimi, Hamid Rahimi, Sharareh Babaei, Mohammad Shahrooei, Nikoo Mozafari, Shirin Zaresharifi, Fatemeh Vahidnezhad, Vida Homayouni, Lam C. Tsoi, Johann E. Gudjonsson, Hakon Hakonarson, Jean-Laurent Casanova, Emmanuelle Jouanguy, Vivien Béziat, Qian Zhang, Aurélie Cobat, Hassan Vahidnezhad

Safety and Diagnostic Utility of Brain Biopsy and Metagenomics in Decision-Making for Patients with Inborn Errors of Immunity (IEI) and Unexplained Neurological Manifestations

Jesmeen Maimaris, Julia Payne, Adriel Roa-Bautista, Judith Breuer, Nathaniel Storey, Sofia Morfopoulou, Alasdair Bamford, Felice D’Arco, Kimberly Gilmour, Kristian Aquilina, Jane Hassell, Yael Hacohen, Adikarige H.D. Silva, Ashirwad Merve, Thomas S. Jacques, Kanchan Rao, Robert Chiesa, Persis Amrolia, Juliana Silva, Helen Braggins, Jinhua Xu-Bayford, David Goldblatt, Austen Worth, Claire Booth, Winnie Ip, Waseem Qasim, Maaike Kusters, Marios Kaliakatsos, Julianne R Brown, Reem Elfeky

A Novel Description of Immunodeficiency and Immune Dysregulation in a 14-Year-Old Girl with Noonan Syndrome 13

Saira Tabassum, Sarah Grün, Ben Molloy, Eppie Jones, Patrick G. Buckley, Rebecca Amet, Anthony M. McElligott, Derek G. Doherty, Stephan Ehl, Timothy Ronan Leahy

Amyloidosis in Human Inborn Errors of Immunity Predicts Poor Prognosis

Elif Soyak Aytekin, Anar Tagiyev, Onat Silleli, İncinur Samur, Fevzi Demirel, Saliha Esenboğa, Emine Arzu Sağlam, Deniz Çağdaş

A Germline Heterozygous Dominant Negative IKZF2 Variant Causing Syndromic Primary Immune Regulatory Disorder and ICHAD

Henry Y. Lu, Maryam Vaseghi-Shanjani, Avery J. Lam, Mehul Sharma, Arezoo Mohajeri, Leandro B. R. Silva, Jana Gillies, Gui Xiang Yang, Susan Lin, Maggie P. Fu, Areesha Salman, Ronak Rahmanian, Linlea Armstrong, Jessica Halparin, Connie L. Yang, Mark Chilvers, Erika Henkelman, Wingfield Rehmus, Douglas Morrison, Audi Setiadi, Sara Mostafavi, Michael S. Kobor, Frederick K. Kozak, Catherine M. Biggs, Clara van Karnebeek, Kyla J. Hildebrand, Megan K. Levings, Stuart E. Turvey

Quality of Life in Japanese Patients with Primary Immunodeficiency Disease is Disrupted throughout the Year

Toshinao Kawai, Hirokazu Kanegane, Masataka Ishimura, Satoshi Okada, Nobuaki Okamatsu, Kaori Nakagawa, Madoka Go, Shinichi Noto

2025: Onward and Upward!

  • Open Access
  • Editorial

Vincent R. Bonagura

Prevalence of Ophthalmological Manifestations in Patients with Inborn Errors of Immunity: A Systematic Review and Meta-Analysis

Laura Zárate-Pinzón, Germán Mejía-Salgado, Carlos Cifuentes-González, Oscar Correa-Jiménez, Stefania Amaris, Alberto Alfaro-Murillo, Juanita Téllez-Zambrano, Angie Verbel, Paula Monje-Tobar, Alejandra de-la-Torre

Deepening Understanding of the Clinical Features and Diagnostic Approaches to Anti-Interferon-Gamma Autoantibody Associated Adult-Onset Immunodeficiency in the Last 20 Years: A Case Report and Literature Review

Liyan Zhao, Jindi Ma, Ying Sun, Xiaopeng Yu, Yingfeng Lu, Haijiang Qian, Ren Yan, Yimin Zhang

Newborn Screening Followed By Early Treatment is Essential to Improve Survival in SCID

Gabriela Assunção Goebel, Luciana Araújo Oliveira Cunha, Fernanda Gontijo Minafra, Jorge Andrade Pinto

Correction to: Pre-Transplant Immune Dysregulation Predicts for Poor Outcome Following Allogeneic Haematopoietic Stem Cell Transplantation in Adolescents and Adults with Inborn Errors of Immunity (IEI)

Thomas A. Fox, Valerie Massey, Charley Lever, Rachel Pearce, Arian Laurence, Sarah Grace, Filippo Oliviero, Sarita Workman, Andrew Symes, David M. Lowe, Valeria Fiaccadori, Rachael Hough, Susan Tadros, Siobhan O. Burns, Markus G. Seidel, Ben Carpenter, Emma C. Morris

Prolonged Postoperative Wound Healing Due to Anti-IL-6 Autoantibody as a Phenocopy of Inborn Errors of Immunity

Shunichi Adachi, Motoshi Sonoda, Masataka Ishimura, Mioko Matsuo, Shouichi Ohga

Chronic Kidney Disease in Common Variable Immunodeficiency: a Multicenter Study

Chiara De Renzis, Renato Finco Gambier, Antonietta Gigante, Carla Maria Deiana, Gianluca Lagnese, Lorenzo Gatti, Giulia Garzi, Giulia Costanzo, Chiara Pagnozzi, Stefania Nicola, Luisa Brussino, Giuseppe Spadaro, Marcello Rattazzi, Davide Firinu, Francesco Cinetto, Cinzia Milito

Complete CD16A Deficiency and Defective NK Cell Function in a Man Living with HIV

Weiying Zhang, Alan F. Scott, David W. Mohr, Roxann Ingersoll, Peter E. Shoucair, Jay H. Bream, Tricia L. Nilles, Hao Zhang, Yue Chen, Robbie B. Mailliard, Joseph B. Margolick

Mosaicism in Two Patients with COPA Syndrome

Maud Tusseau, Yves Hatchuel, Cynthia Rames, Alix de Becdelievre, Alexandre Belot, Celine Auboiroux, Clémence David, Djamal Djeddi, Pascale Fanen, Marie-Louise Frémond, Fanny Mathieu, Daddy Randriamiarisoa

From Rare to Common: Genetic Insights into TLR7 Variants in a Multicentric Spanish Study on COVID-19 Severity

Arnau Antolí, Gardenia Vargas-Parra, Angels Sierra-Fortuny, Jose Luis Gomez-Vazquez, Paula Rofes, Elisabet Munté, Julen Viana-Errasti, Raúl Marín-Montes, Adriana López-Doriga, Lidia Feliubadaló, Jesús del Valle, Alexandre Pérez-González, Eva Poveda, Xavier Solanich, Conxi Lázaro

Correction to: Inherited CD19 Deficiency Does Not Impair Plasma Cell Formation or Response to CXCL12

  • Open Access
  • Correction

Kieran Walker, Anoop Mistry, Christopher M. Watson, Fatima Nadat, Eleanor O’Callaghan, Matthew Care, Laura A. Crinnion, Gururaj Arumugakani, David T. Bonthron, Clive Carter, Gina M. Doody, Sinisa Savic

Genetics in a Danish Common Variable Immunodeficiency Cohort

Camilla Heldbjerg Drabe, Mira Marie Laustsen, Hanne Vibeke Marquart, Hans Jakob Hartling, Rasmus L. Marvig, Jannik Helweg-Larsen, Ann-Brit Eg Hansen, Jens Lundgren, Marie Helleberg, Line Borgwardt, Terese L. Katzenstein

Clinical and Immunological Features of a Large DiGeorge Syndrome Cohort

Merve Süleyman, Deniz Cagdas, Pelin Özlem Şimşek Kiper, Gülen Eda Ütine, Merve Kaşıkcı Çavdar, Feyzi İlhan Tezcan

Unresolved Issues in Familial Mediterranean Fever: Is p.R202Q MEFV Variant Potentially Pathogenetic in Unleashing Inflammation?

Chiara Baggio, Francesca Oliviero, Paola Galozzi, Irina Guidea, Andrea Doria, Roberta Ramonda, Sara Bindoli, Paolo Sfriso

Safety and Efficacy of Intravenous Immune Globulin 10% (BIVIGAM®) in Children with Primary Immune Deficiency

Isaac Melamed, Jolan E. Walter, Oral Alpan, Devi Jhaveri, Alan Koterba, Rebecca Avila, Miranda Anaya, Marie-Chantale Simard, Wei Du, Jennifer W. Leiding

NET Proteomic Profiling Reveals New Pathways Potentially Implicated in Dendritic Cell-Mediated Inflammation in DADA2 Patients

Sara Signa, Martina Bartolucci, Martina Bonacini, Arinna Bertoni, Genny Del Zotto, Anna Corcione, Andrea Petretto, Silvia Della Bella, Roberta Bertelli, Dario Di Silvestre, Andrea Lomagno, Pierluigi Mauri, Roberta Caorsi, Maurizio Bruschi, Simone Balin, Paola Bocca, Stefano Volpi, Maria Grazia Catanoso, Alessia Cafaro, Gino Tripodi, Lorenzo Pellottieri, Domenico Mavilio, Antonella Insalaco, Stefania Croci, Carlo Salvarani, Marco Gattorno, Francesca Schena

Correction to: Newborn Screening Followed By Early Treatment is Essential to Improve Survival in SCID

Gabriela Assunção Goebel, Luciana Araújo Oliveira Cunha, Fernanda Gontijo Minafra, Jorge Andrade Pinto

Clinicopathological and Immunogenetic Characterization in 8 Patients with Familial Hemophagocytic Lymphohistiocytosis Type 2: A Study from North India with Literature Review

Saniya Sharma, Suprit Basu, Taru Goyal, Madhubala Sharma, Prabal Barman, Gurjit Kaur, Jitendra K. Shandilya, Pandiarajan Vignesh, Rakesh Kumar Pilania, Ankur Kumar Jindal, Manpreet Dhaliwal, Prateek Bhatia, Sreejesh Sreedharanunni, Pulkit Rastogi, Nabhajit Mallik, Prashant Sharma, Anupriya Kaur, Deepti Suri, Amit Rawat, Surjit Singh

BK Virus-Specific T Cell Response Associated with HLA Genotypes, RhD Status, and CMV or EBV Serostatus in Healthy Donors for Optimized Cell Therapy

Rut Mora-Buch, Maria Tomás-Marín, Helena Pasamar, Emma Enrich, Cleofé Peña-Gómez, Francesc Rudilla

Successful Treatment of Skin Dyskeratosis Due To NLRP1 Mutation Using Baricitinib

Gokce Vatansever, Zuhal Karali, Yasin Karali, Hasibe Artac, Sara Sebnem Kilic

Somatic Mosaic NLRC4 Variants in Autoinflammatory Diseases: Functional Characterization and Correlation of Mosaicism Levels with Disease Age of Onset and Severity

Farah Diab, Camille Louvrier, Marc Fabre, Christine Lin, Mira Rabbaa, Eman Assrawi, Aphrodite Daskalopoulou, Rahma Mani, Florence Dastot Le Moal, William Piterboth, Marie Legendre, Serge Amselem, Sonia Athina Karabina, Irina Giurgea

Evaluation of a Multiplex Electrochemiluminescence Assay for Detection of Anti-Pneumococcal Antibodies in the Diagnosis of Selective Polysaccharide Antibody Deficiency

  • Open Access
  • Research

Nicolas Perrard, Aurore Collet, Sarah Stabler, Sandrine Poizot, Myriam Labalette, Gatien Durand, Frédéric Batteux, Floriane Mirgot, Benjamin Lopez, Sylvain Dubucquoi, Lucie Chevrier, Guillaume Lefèvre

De Novo Missense Variant c.170 C > A of ELANE in a Chinese Infant with Congenital Neutropenia: Case Report and Literature Review

Xinying Chen, Xiaoxin Zhao, Bo Pan, Lianyu Wang, Wensi Xie, Wenwen Jiang, Jinghua Yang, Weixia Wu, Yanxin Li

Dupilumab-induced Eosinophilic Granulomatosis with Polyangiitis Complicated by Peripheral Neuropathic Pain: a Case Report and Literature Review

Jiajun Wu, Linlin Li, Weidong Ten, Yuchen Wang, Ruiqi Liu, Binbin Hu, Jun Tan, Feilin Dong, Kaiwen Shi, Haibo Zhang, Lizhong Su, Weiming Hu

Reassessing Polysaccharide Responsiveness: Unveiling Limitations of Current Guidelines and Introducing the Polysaccharide Responsiveness Percentile Approach

Stine Fischer Fogsgaard, Sonia Todaro, Carsten Schade Larsen, Charlotte Sværke Jørgensen, Jens Magnus Bernth Jensen

Discordant Restoration of TCR Expression and Function by CD247 Somatic Reversions

Alejandro C. Briones, Ana V. Marin, Rebeca Chaparro-García, Marta López-Nevado, David Abia, Ivan Estevez-Benito, Daniel Chacón-Arguedas, Edgar Fernández-Malavé, Paula P. Cardenas, José R. Regueiro

Pilot Study of Anti-PD-1 Antibody Combined with L-DEP Regimens in the Treatment of Relapsed/Refractory EBV-HLH in Children

Shengchao Wu, Jing Miao, Fenying Zhao, Juan Liang, Xiaojun Xu

Molecular Interactions Between NK Cells and Acute Leukemic Cells: KIR2DL5 Drastically Limits NK Cell Responses

Enora Ferron, Maxime Jullien, Martin Braud, Gaëlle David, Cynthia Fourgeux, Mathilde Bastien, Perla Salameh, Catherine Willem, Nolwenn Legrand, Alexandre Walencik, Thierry Guillaume, Pierre Peterlin, Alice Garnier, Amandine Lebourgeois, Katia Gagne, Jeremie Poschmann, Patrice Chevallier, Christelle Retière

Loss of MALT1 Function in a Patient With Combined Immunodeficiency: a Novel Pathogenic Variant and Immunological Insights

Zhirui Tian, Ran Chen, Yanjun Jia, Jinqiu Jiang, Rongxin Dai, Yunfei An, Xuemei Tang, Xiaodong Zhao, Lina Zhou

β-Actin Deficiency in Baraitser-Winter Syndrome Type 1 Disrupts T-Cell Function and Immune Regulation: Implications for Targeted Therapy in Actinopathies

Zahala Bar-On, Or Reuven, Atar Lev, Amos J. Simon, Wajeeh Salaymeh, Alit Shalom, Raz Somech, Ortal Barel, Sigal Porges, Elisheva Javasky, Vered Molho-Pessach, Zvi Granot, Dan Bijaoui, Tzahi Neuman, Yuval Tal, Michal Baniyash, Michael Berger, Oded Shamriz

A Novel R140S γc Variant Alters Cellular Distribution, Reduces Surface Expression, and Impairs Cytokine Signaling in Atypical X-SCID

Lulu Dong, Bijun Sun, Qing Min, Xin Meng, Yaxuan Li, Meiping Yu, Zichao Wen, Xuzhe Wu, Ziying Hu, Runyun Zhang, Xiaoqian Feng, Yingying Luan, Chunhui Lu, Wenjie Wang, Xiaoying Hui, Jia Hou, Jinqiao Sun, Shen Cai, Xiaochuan Wang, Ji-Yang Wang

The Immunodeficiency Profile of Lymphocytes in the Patient with Moesin Gene Mutation During Different Infection

Qian Liu, Ai Zhang, Yuxin Bai, Xinpu Yang, Xinglou Liu, Lu Yang, Yanqin Ying, Xiaoping Luo, Feng Fang, Chaohong Liu

Antisynthetase Syndrome during anti-TNF-alpha Therapy: Report of Two Cases

Alexandre-Raphael Wery, Helene Bugaut, Sarah Louis-Leonard, Yves Allenbach, Olivier Benveniste

Expanding the Genetic and Clinical Spectrum of Hereditary Angioedema with Normal C1 Inhibitor: Novel Variants and Treatment Insights

Haiqing Gao, Ying Zhao, Shengan Chen, Zhen Zhang, Fanping Yang, Zihua Chen, Lanting Wang, Jin Yang, Shan He, Chang Tang, Shenyuan Zheng, Chenggong Guan, Yu Xu, Lin Tang, Aiyuan Zhang, Marcus Maurer, Dylan Lee, Li Ma, Xiaoqun Luo

Self-reported Clinical Outcomes and Quality of Life in Agammaglobulinemia: the Importance of an Early Diagnosis

Maartje Blom, Annelotte J. Duintjer, Mahnaz Jamee, Melanie de Gier, Markéta Bloomfield, Adam Klocperk, Pavlina Kralickova, Neslihan E. Karaca, Oksana Boyarchuk, Peter Čižnár, Miloš Jeseňák, Svetlana Sharapova, Ekaterina Skopovets, Luis I. Gonzalez-Granado, Serena Palmeri, Stefano Volpi, Andrea Martin Nalda, Sonia Rodriguez Tello, Pere Soler-Palacín, Hassan Abolhassani, Federica Pulvirenti, Bianca Cinicola, Uwe Wintergerst, Godelieve J. de Bree, J. Merlijn van den Berg, Helen L. Leavis, Clementien Vermont, Virgil A.S.H. Dalm, Koen van Aerde, Stefanie Henriet, Hetty Jolink, Judith Potjewijd, Arjan Lankester, Chandoshi Rhea Mukherjee, Dagmar Berghuis, Małgorzata Pac, Benjamin M.J. Shillitoe, Andrew R. Gennery, Mirjam van der Burg

To The Editor a Novel Mutation in MALT1 Deficiency

Hulya Kose

Common Variable Immunodeficiency Disorder: A Decade of Insights from a Cohort of 150 Patients in India and the Use of Machine Learning Algorithms to Predict Severity

Umair Ahmed Bargir, Priyanka Setia, Mukesh Desai, Chandrakala S, Aparna Dalvi, Shweta Shinde, Maya Gupta, Neha Jodhawat, Amrutha Jose, Mayuri Goriwale, Reetika Malik Yadav, Disha Vedpathak, Lavina Temkar, Snehal Shabrish, Gouri Hule, Vijaya Gowri, Prasad Taur, Amita Athavale, Farah Jijina, Shobna Bhatia, Akash Shukla, Manas Kalra, Meena Sivasankaran, Sarath Balaji, Punit Jain, Sujata Sharma, Harikrishnan Gangadharan, Gaurav Narula, Ratna Sharma, Pranoti Kini, Mamta Mangalani, Abhishek Zanwar, Himanshi Chaudhary, Narendra Kumar Chaudhary, Ujjawal Khurana, Ashish Bavdekar, Girish Subramaniam, Revathi Raj, Subhaprakash Saniyal, Nitin Shah, Tehsin Petiwala, Prawin Kumar, Venkatesh Pai, Sagar Bhattad, Abhinav Sengupta, Manish Soneja, Dayanand Upase, Abhijeet Ganapule, Indrani Talukdar, Manisha Madkaikar

Malignancy in Adults with Inborn Errors of Immunity: A Retrospective Single-Center Study

Reyhan Gumusburun, Onurcan Yıldırım, Metehan Karakoc, Kasım Okan , Sinem Inan, Ceyda Tunakan Dalgıc, Hatice Serpil Akten, Gulhan Bogatekin, Gokten Bulut, Meryem Demir, Hasibe Aytac, Asuman Camyar, Melih Ozısık, Derya Demir, Nur Soyer, Mehmet Soylu, Funda Elmas Uysal, Ayca Aykut, Asude Durmaz, Semiha Ozgul, Aytul Zerrin Sin, Omur Ardeniz

CVID Enteropathy Is Difficult To Treat and Shows a Heterogeneous Histopathology

Noah M. Juliana, Mirjam Severs, Jan Willem Marsden, Joris M. van Montfrans, Pauline M. Ellerbroek, Miangela M. Lacle, Virgil A.S.H. Dalm, Amir Abelmoumen, Helen. L. Leavis

A Novel Cause of CIDP: Homozygous Hotspot Mutation, c.793 C > T in CASP8 Gene

Kamal Sharma, Ana Flores, Paul Maertens

Five CGD-Linked CYBB Mutations in Chinese Patients: Insights Into Predicting IFN-γ Treatment Efficacy

Yi-Xin Liao, Lu Xia, Ping Liu, Xin-Hua Li, Li-Pin Liu, Li Xu, Di Tian, Dong-Ling Shi, Xiao-Man Guo, Xue Mei, Satoshi Okada, Ya-Bin Liu, Fei-Fei Wang, Xiao-Chuan Wang, Chen Zhao, Xiao-Hong Fan, Jin-Qiao Sun, Tie-Fu Liu, Yun Ling

To the Editor, "CEBPE-Related Immunodeficiency Mimicking Acute Myeloid Leukemia: A Diagnostic Pitfall in Pediatric Autoinflammatory Disease"

Pankaj Dwivedi, Kishor Deshpande, Trupti Dhabale, Atul Kapse, Anand Pathak

A Novel Compound Heterozygous Mutation in the IL12RB1 Gene Causes Susceptibility To Mycobacterium Tilburgii Infection

Mengqing Qian, Jingyu Zhou, Peidong Chen, Ning Jiang, Ting Wang, Xinchang Chen, Haoxin Xu, Feiran Zhou, Yixuan Yang, Xing Lin, Qingluan Yang, Lingyun Shao, Qiaoling Ruan, Wenhong Zhang

Novel Insights into the Clinical Features, Genetic Spectrum and Clonal Evolution of Patients Carrying NLRP3 Mosaicism

Nuria Bonet, Jose M. Mascaro Jr, Laura Hurtado-Navarro, Diego Angosto-Bazarra, Jose Luis Callejas-Rubio, Daniel Clemente, Alejandro Souto, Olalla Lima, Natalia Palmou-Fontana, Eulalia Baselga, Santiago Jiménez-Treviño, Agustin Remesal, Marta Andreu-Barasoain, Luis Fernandez-Dominguez, Josep Riera-Monroig, Maria Aparicio, Juan Garcia-Herrero, David Pesqué, Maria Teresa Sanchez-Calvin, Jose Miguel Lezana-Rosales, Maria Correyero-Plaza, Julio Garcia-Villalba, Victor Bolaño, Sara Peiro, Mar Diaz, Alexandru Vlagea, Daniel Lorca, Virginia Fabregat, Maria Carmen Anton, Susana Plaza, Luis Ignacio Gonzalez-Granado, Concepción Postigo, Jose Maria Garcia-Ruiz de Morales, Enrique Gómez de la Fuente, Estibaliz Iglesias, Javier Gomez-Roman, Caritina Vázquez-Triñanes, Juan Carlos Lopez-Robledillo, Norberto Ortego-Centeno, Ana María Giménez-Arnau, Josep M. Campistol, Hafid Laayouni, Iñaki Ortiz de Landazuri, Jordi Yagüe, Eva Gonzalez-Roca, Anna Mensa-Vilaro, Oscar Fornas, Eduardo Ramos, Pablo Pelegrin, Ferran Casals, Juan I. Arostegui

Novel Compound Heterozygous Mutations in HOIP Result in Autoinflammation and Immunodeficiency

Li Wang, Jing Xiao, Rui Gan, Xuemei Tang, Junfeng Wu¹

Malignancy and Autoimmune Susceptibility in Adult Patients with Human Inborn Errors of Immunity

Alejandro Segura-Tudela, Celia Nieto-López, Francisco Javier Bermejo-Olivera, Luis A. Andara, Javier Arroyo-Ródenas, Lucía Dueñas-Prieto, Ángel Alfocea-Molina, Estela Paz-Artal, Daniel Pleguezuelo, Oscar Cabrera-Marante, Luis M. Allende

A Child with Chronic Mucocutaneous Candidiasis Harbors a Novel Gain-of-Function Mutation in STAT1

Yang Xiang, Shuo Sun, Hong Wang, Chia‑Chi Lo, Jie Wu, Wei‑Te Lei, Fengming Li, Xiaodong Liu, Ningning Dang, Cheng-Lung Ku, Jing Guo

Diagnostic and Monitoring Strategies for VEXAS Syndrome: Evaluating Sanger Sequencing, NGS, and the SWIM-Score

Lasse von Bornemann Fløe, Kirstine Overgaard Dyrmose, Camilla Darum Sørensen, Maja Nørgaard, Fie Kirstine Udby Pedersen, Johan Vad-Nielsen, Michael Knudsen, Mette Christiansen, Marie Bill, Mads Nyhuus Bendix Rasch, Ellen Margrethe Hauge, Anne Troldborg, Nicklas Heine Staunstrup, Jens Magnus Bernth Jensen

Homozygous Loss of Function PIK3CD Mutation in Multiple Siblings Leading To B Cell Dysregulation and Autoimmunity

Huda Alajlan, Amer Al-Mazrou, Hibah Alruwaili, Safia Sumayli, Ali Almehaidib, Khalid Alsaleem, Sawsan Abu Awwad, Hazem Ghebeh, Monther Al-Alwan, Anas M. Alazami, Hamoud Al-Mousa

Identification of Potential Therapeutic Agents for Type I Interferonopathy Using iPSC-Based Disease Modeling

Bunki Natsumoto, Hirofumi Shoda, Motonori Tsuji, Makoto Otsu, Hideki Taniguchi, Kazuhiko Yamamoto, Keishi Fujio

The Targets of Immune Adverse Events in Cancer Immunotherapy by Combined Check-point Inhibitors Resemble those Seen in IPEX Patients

Maria Francisca Moraes-Fontes, Jocelyne Demengeot, António Coutinho

Correction to: Self-reported Clinical Outcomes and Quality of Life in Agammaglobulinemia: the Importance of an Early Diagnosis

  • Open Access
  • Correction

Maartje Blom, Annelotte J. Duintjer, Mahnaz Jamee, Melanie de Gier, Markéta Bloomfield, Adam Klocperk, Pavlina Kralickova, Neslihan E. Karaca, Oksana Boyarchuk, Peter Čižnár, Miloš Jeseňák, Svetlana Sharapova, Ekaterina Skopovets, Luis I. Gonzalez-Granado, Serena Palmeri, Stefano Volpi, Andrea Martin Nalda, Sonia Rodriguez Tello, Pere Soler-Palacín, Hassan Abolhassani, Federica Pulvirenti, Bianca Cinicola, Uwe Wintergerst, Godelieve J. de Bree, J. Merlijn van den Berg, Helen L. Leavis, Clementien Vermont, Virgil A.S.H. Dalm, Koen van Aerde, Stefanie Henriet, Hetty Jolink, Judith Potjewijd, Arjan Lankester, Chandoshi Rhea Mukherjee, Dagmar Berghuis, Małgorzata Pac, Benjamin M.J. Shillitoe, Andrew R. Gennery, Mirjam van der Burg

Stool Screening for Campylobacter Species in Hypogammaglobulinemic Patients Receiving Immunoglobulin Therapy

Basile Mechernene, Philippe Lehours, Etienne Rivière, Noémie Gensous, Claire Tinévez, Pierre Duffau, Félix Blaison, Camille Prot-Leurent, Thomas Pires, Carine Greib, Thibaut Zannese, Martine Dubois, Lucie Bénéjat, Astrid Ducournau, Johanna Aptel, Quentin Jehanne, Jean-François Viallard, Estibaliz Lazaro

Epstein–Barr Virus-Associated Smooth Muscle Tumors in inborn Errors of Immunity: A single-center Case Series and Literature Overview

Gulnar Aliyeva, Inci Yaman Bajin, Diclehan Orhan, Tezer Kutluk, Kemal Kösemehmetoğlu, Deniz Cagdas

Disseminated Histoplasmosis in Very Early Diagnosed De Novo STAT3-HIES

Armen Sanosyan, Ran Hazan, Alexandra F. Freeman, Erica G. Schmitt, Caroline C. Horner

A Novel Hypomorphic STAT3 Gene Variant in a 7-year-old Male with Hyper-IgE Syndrome

Tomoko Higashigawa, Yukiko Ikeyama, Kosuke Ashihara, Takaki Asano, Satoshi Okada, Yuki Miwa, Katsumi Sugiura, Hidenori Ohnishi

Novel SYK Variant Causes Enhanced SYK Autophosphorylation and PI3K Activation in an Antibody-Deficient Patient

Emily S. J. Edwards, Josh Chatelier, Gregory I. Snell, Go Hun Seo, Rin Khang, Robyn E. O’Hehir, Julian J. Bosco, Menno C. van Zelm

Beyond the Classical Triad: Atypical Presentations and Regulatory T Cell Phenotyping in a Cohort of IPEX Patients

  • Open Access
  • Research

Ismail Yaz, Sevil Oskay Halacli, Canberk Ipsir, Baris Ulum, Elif Soyak Aytekin, Hacer Neslihan Bildik, Melike Ocak, Hanife Avci, Fatma Visal Okur, Hayriye Hizarcioglu Gulsen, Hulya Demir, Ayse Metin, Alev Ozon, Baris Kuskonmaz, Ilhan Tezcan, Saliha Esenboga, Deniz Cagdas

Type I IFNs Decrease SARS-CoV-2 Replication in Human Cardiomyocytes and Increase Cytokine Production in Macrophages

Verónica Durán, Eirini Nikolouli, Shambhabi Chatterjee, Bibiana Costa, Andreas Pavlou, Annett Ziegler, Jennifer Becker, Kira Baumann, Matthias Bruhn, Kathrin Haake, Anna Rafiei Hashtchin, Ingrid Gensch, Andrea Korte, Yvonne Lisa Behrens, Shen-Ying Zhang, Jean-Laurent Casanova, Christian Bär, Nico Lachmann, Thomas Thum, Ulrich Kalinke

Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure

Zuzana Pinc, David Kundrat, Monika Kaisrlikova, Andrea Hrustincova, Sarka Vanikova, Iva Trsova, Jitka Vesela, Martin Vostry, Barbora Pejsova, Sarka Ransdorfova, Lucie Slamova, Tomas Prochazka, Daniel Lysak, Anna Jonasova, Marketa Stastna Markova, Jaroslav Cermak, Monika Belickova, Hana Votavova

JAK Inhibition in STAT1 Gain-of-Function-Associated Histoplasmosis and HLH

Jenny Patel, Elizabeth Daniels, Eric Hawley, WashU Consortium, Maleewan Kitcharoensakkul

Consecutive non-Aspergillus Fungal Invasive Infections in Chronic Granulomatous Disease: Data from the French National Reference Center for Primary ImmunoDeficiencies and literature review

Leïla Lefevre, Olivier Paccoud, Bénédicte Neven, Marie-Elisabeth Bougnoux, Mickaël Alligon, Julie Bruneau, Alain Fischer, Despina Moshous, Jacinta Bustamante, Capucine Picard, Sylvain Poiree, Romain Guery, Martin Castelle, Felipe Suarez, Ambroise Marcais, Morgane Cheminant, Claire Rouzaud, Dea Garcia Hermoso, Hélène Salvator, Emilie Catherinot, Benoit Pilmis, Luminita Luca, Jean-Paul Brion, Matthieu Revest, Virginie Gandemer, Lucie Lelievre, Muriel Alvarez, Anne Conrad, Fanny Fouyssac, Catherine Gaud, Sophie Blumental, Stéphane Blanche, Olivier Lortholary, Nizar Mahlaoui, Fanny Lanternier

Fungal Infections – a Stealthy Enemy in Patients with Chronic Granulomatous Disease: a 28-years’ Experience from North India

Pandiarajan Vignesh, Sanjib Mondal, Ridhima Aggarwal, Sangeetha Siniah, Sathish Kumar Loganathan, Dharmagat Bhattarai, Jhumki Das, Sumit Goel, Kaushal Sharma, Harsimran Kaur, Aravind Sekar, Manpreet Dhaliwal, Saniya Sharma, Rakesh Kumar Pilania, Ankur Kumar Jindal, Deepti Suri, Kirti Gupta, Shivaprakash M Rudramurthy, Amit Rawat, Surjit Singh

Next-generation Sequencing and Other Second Tier Tests in Newborn Screening for (X-linked) Agammaglobulinemia

Maartje Blom, Annelotte J. Duintjer, Ingrid Pico-Knijnenburg, Sandra Imholz, Sahila Balkassmi, Hermine A. van Duyvenvoorde, Mirjam van der Burg

Dual Targeted Therapy with Baricitinib and Anifrolumab in Infantile Spondyloenchondrodysplasia with Immune Dysregulation

Sindhu Pandurangi, Nicole Soucy, Claudia M. Moreda, Vivekanand Singh, Christian A. Wysocki

Combined Immunodeficiency Associated with Two Novel CARMIL2 Mutations: A Case Series

Saja I. Abu Ghannam, Celina R. Andonie, Tala Mahmoud Hamadna, Lila H. Abu-Hilal, Rabee S. Adwan

Impact of Immune Cells on IgA Vasculitis via Metabolites and Inflammatory Cytokines

Ming Xie, Nian Zhou, Qian Liang, Zhong Lin, Yanbing Yao

A Multicentric Clinical Study to Evaluate Pharmacokinetics, Efficacy, and Safety of Immune Globulin Subcutaneous 20% Weekly/Biweekly Dosing in Treatment-Experienced Patients and Loading/Weekly Maintenance Dosing in Treatment-Naïve Patients with Primary Immunodeficiency

William R. Lumry, Michael Palumbo, Connie Hsu, Iftikhar Hussain, Donald McNeil, Tracy Bridges, H. James Wedner, Mark Scarupa, Elsa Mondou, Nisha Nanaware-Kharade, Kim Hanna, Montse Querolt Coll, Juan Oliveras

A New Variant in CTLA4 Highlights the Heterogeneous Phenotype of CTLA4 Haploinsufficiency

Jonathan Sormani, Alexandre Belot, Raphaele Nove-Josserand, Capucine Picard, Jérémie Rosain, Marine Villard, Sebastien Viel, Marie Ouachee-Chardin, Emma Mercier, Catherine Giannoli, Philippe Moskovtchenko, Maud Rabeyrin, Brigitte Balme, Isabelle Durieu, Anne-Laure Mathieu, Quitterie Reynaud

S100A4 Induces Neutrophilic Inflammation in Chronic Rhinosinusitis with Nasal Polyps via TLR4 Pathway

Yanyi Tu, Chunhao Li, Tao Li, Jing Liu, Linghui Meng, Shengyang Liu, Ping Li, Yuzhu Wan, Aiping Chen, Li Shi, De-Yun Wang

Bronchiectasis, Low IgG Levels and Lack of Vaccination are Risk Factors for Covid-19 Hospitalization in X-linked Agammaglobulinemia – A Retrospective Multicenter Study

Caroline Stenlander, Hannes Lindahl, Emelie Wahren-Borgström, Christoph B. Geier, Anna Sediva, Børre Fevang, Cinzia Milito, Cláudia Varandas, Cristina Roca-Oporto, Federica Pulvirenti, Isabel Hodl, Ivana Malkusova, Jacques G. Rivière, Jiri Litzman, Jolan E. Walter, Leif G. Hanitsch, Olaf Neth, Pavlina Kralickova, Rahim Miller, Serena Shaffren, Susana L. Silva, Terese Katzenstein, Timi Martelius, Urs C. Steiner, C. I. Edvard Smith, Klaus Warnatz, Peter Bergman

Evaluating Pediatric Reference Ranges for Extended Immunophenotyping from a Finnish Cohort against Published References

Elli Äärimaa, Anssi Kesäläinen, Samuel Askeli, Anne Toivonen, Okko Savonius, Oscar Brück, Pauliina Lusila, Kim Vettenranta, Santtu Heinonen, Timo Jahnukainen, Minna Koskenvuo, Sanna Siitonen, Sari Lehtimäki, Eliisa Kekäläinen

The Spectrum of Bacterial Infection in a Large Cohort of Chinese Pediatric Patients with Inborn Errors of Immunity: A Nine-year, Retrospective, Single-center Study

Xiaodan Zhu, Pan Fu, Wenjie Wang, Wenjing Ying, Bijun Sun, Jia Hou, Xiaoying Hui, Jinqiao Sun, Chuanqing Wang, Qinhua Zhou, Xiaochuan Wang

STAT-1 gain-of-function CMC: Remission of Oral Candidiasis during PD-1 Inhibitor Treatment of Oral Cancer

Jannik Helweg-Larsen, Ditte Marie L. Saunte, Line Borgwardt, Claus Andrup Kristensen, Hanne Marquart

Neurological Phenotypes of SOCS1 Haploinsufficiency: Insights from Functional and Histological Investigations

Serena Palmeri, Ignazia Prigione, Francesca Schena, Marie Jeanpierre, Arinna Bertoni, Federica Penco, Paola Bocca, Genny Del Zotto, Sara Massucco, Consuelo Venturi, Angelo Schenone, Gino Tripodi, Giada Recchi, Marina Lanciotti, Maurizio Miano, Caterina Matucci-Cerinic, Gianmaria Viglizzo, Riccardo Papa, Frédéric Rieux-Laucat, Roberta Caorsi, Marco Gattorno, Stefano Volpi

Natural History of Swiss Infants with Non-SCID T-cell Lymphopenia Detected by Newborn Screening: A Cohort Study

Maarja Soomann, Seraina Prader, Philipp K. A. Agyeman, Geraldine Blanchard-Rohner, Michael Buettcher, Christian R. Kahlert, Nicole Ritz, Aikaterini Theodoropoulou, Jana Pachlopnik Schmid, Johannes Trück

Clinical and Immunological Impact of JAK Inhibition in Concurrent Down Syndrome and STAT1 Gain of Function

Pilar Blanco-Lobo, Paula Gilabert-Prieto, Beatriz de Felipe, David Moreno-Fuentes, Paloma Guisado Hernández, Ana Ortiz-Ramírez, Anna Mensa-Vilaró, Juan I. Aróstegui, Natalia Palmou, Valle Velasco Gonzalez, Ángela Deyà Martinez, Jan Ramakers, José Ivorra-Cortés, Cristina Roca, Elisa Cordero, Inmaculada Guillen, Nicolás Valerdiz Menéndez, José Manuel Lucena, Mirella Gaboli, Peter Olbrich, Olaf Neth

CXCL13 as a Biomarker of Complex Common Variable Immunodeficiency

Ioasaf Karafotias, Helene Martini, Charlotte V. Lee, Terrence T. J. Hunter, Padmalal Gurugama, Mary Guckian, Rachael Steven, Stephen Jolles, Mark Peakman, David Fear, Mohammad A. A. Ibrahim

Monocyte/macrophage-derived NLRP3 Promotes the Onset and Progression of Ankylosing Spondylitis Via the NOD-like Receptor Pathway

  • Open Access
  • Research

Jiarui Chen, Chengqian Huang, Tianyou Chen, Sitan Feng, Jiang Xue, Zhongxian Zhou, Shengsheng Huang, Tuo Liang, Rongqing He, Boli Qin, Xiaopeng Qin, Sen Mo, Chenxing Zhou, Shaofeng Wu, Wendi Wei, Hao Li, Zhaojun Lu, Yingying Qin, Shian Liao, Liyi Chen, Xinli Zhan, Chong Liu

Whole Genome Sequencing in 25 Families with Suspected Inborn Errors of Immunity: Diagnostic Yield and Clinical Relevance of Genome-wide Analysis

  • Open Access
  • Research

Jong Kwon Lee, Ja-Hyun Jang, Doo Ri Kim, Areum Shin, Jong-Ho Park, Young-Gon Kim, Jong-Won Kim, Yae-Jean Kim, Eun-Suk Kang

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Keynote webinar | Spotlight on progress in colorectal cancer

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CRC remains a major global health burden, but advances in screening, treatment, and lifestyle-based prevention continue to reshape clinical practice. Gain insights into how the latest research can be leveraged to optimize patient care across the CRC continuum.

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Keynote webinar | Spotlight on functional neurological disorder

FND perplexes and frustrates patients and physicians alike. Limited knowledge and insufficient awareness delays diagnosis and treatment, and many patients feel misunderstood and stigmatized. How can you recognize FND and what are the treatment options?

Prof. Mark Edwards
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