Issue 6/2021
Content (41 Articles)
Profiling of T Cell Repertoire in SARS-CoV-2-Infected COVID-19 Patients Between Mild Disease and Pneumonia
Che-Mai Chang, Po‐Hao Feng, Tsung-Hsun Wu, Houda Alachkar, Kang-Yun Lee, Wei-Chiao Chang
Robust Antibody and T Cell Responses to SARS-CoV-2 in Patients with Antibody Deficiency
Hannah Kinoshita, Jessica Durkee-Shock, Mariah Jensen-Wachspress, Vaishnavi V. Kankate, Haili Lang, Christopher A. Lazarski, Anjeni Keswani, Kathleen C. Webber, Kimberly Montgomery-Recht, Magdalena Walkiewicz, Luigi D. Notarangelo, Peter D. Burbelo, Ivan Fuss, Jeffrey I. Cohen, Catherine M. Bollard, Michael D. Keller
MHC Haplotyping of SARS-CoV-2 Patients: HLA Subtypes Are Not Associated with the Presence and Severity of COVID-19 in the Israeli Population
Shay Ben Shachar, Noam Barda, Sigal Manor, Sapir Israeli, Noa Dagan, Shai Carmi, Ran Balicer, Bracha Zisser, Yoram Louzoun
Evolution of the Human Cytokine Response from Acute Illness to Disease Resolution in SARS-Cov-2 Infection—Implications for Therapeutic Monitoring and Therapeutic Targets
George P. Drewett, Ana Copaescu, Effie Mouhtouris, Natalie Hannan, Fiona James, Olivia Smibert, Natasha E. Holmes, Jason A. Trubiano
SARS-CoV-2 Infection in a Child with Severe Congenital Neutropenia
Pandiarajan Vignesh, Sanjib Mondal, Murugan Sudhakar, Yogish Kumar Sharma, Arun Bansal, Mini Singh, Man Updesh Singh Sachdeva
Neutralizing Autoantibodies to Type I Interferons in COVID-19 Convalescent Donor Plasma
Sara E. Vazquez, Paul Bastard, Kathleen Kelly, Adrian Gervais, Philip J. Norris, Larry J. Dumont, Jean-Laurent Casanova, Mark S. Anderson, Joseph L. DeRisi
Haploidentical Stem Cell Transplant with Post-Transplant Cyclophosphamide in Pediatric Hemophagocytic Lymphohistiocytosis
Diego Medina-Valencia, Daniela Cleves, Estefania Beltran, Natalia Builes, Alexis A. Franco, Andrés Felipe Escobar-González, Manuela Olaya
Atypical Presentation of Severe Fungal Necrotizing Fasciitis in a Patient with X-Linked Agammaglobulinemia
Chai Teng Chear, Revathy Nallusamy, Kwai Cheng Chan, Ratna Mohd Tap, Mohd Farid Baharin, Sharifah Nurul Husna Syed Yahya, Prasobhan Bala Krishnan, Saharuddin Bin Mohamad, Adiratna Mat Ripen
Rapid Flow Cytometry-Based Assay for the Functional Classification of MEFV Variants
Yoshitaka Honda, Yukako Maeda, Kazushi Izawa, Takeshi Shiba, Takayuki Tanaka, Haruna Nakaseko, Keisuke Nishimura, Hiroki Mukoyama, Masahiko Isa-Nishitani, Takayuki Miyamoto, Hiroshi Nihira, Hirofumi Shibata, Eitaro Hiejima, Osamu Ohara, Junko Takita, Takahiro Yasumi, Ryuta Nishikomori
Severe Fatigue Is Common Among Pediatric Patients with Primary Immunodeficiency and Is Not Related to Disease Activity
Linde N. Nijhof, Marco van Brussel, Esther M. Pots, Raphaële R. L. van Litsenburg, Elise M. van de Putte, Joris M. van Montfrans, Sanne L. Nijhof
Humoral Immunodeficiency and Immune Globulin Replacement Therapy (IGRT) Usage in DiGeorge Syndrome
Sara H. Soshnick, Tuhina Joseph, Nicholas J. Bennett
Diagnostic Challenges in Pediatric Hemophagocytic Lymphohistiocytosis
Stephanie J. Si, Sarah K. Tasian, Hamid Bassiri, Brian T. Fisher, Jasmyn Atalla, Reema Patel, Neil Romberg, Michele P. Lambert, Michele Paessler, Edward J. Behrens, David T. Teachey, Kathleen E. Sullivan
A Minimal Parameter Set Facilitating Early Decision-making in the Diagnosis of Hemophagocytic Lymphohistiocytosis
Bas M. Smits, Joris van Montfrans, Samuel A. Merrill, Lisette van de Corput, Mariëlle van Gijn, Andrica de Vries, Cor van den Bos, Floor Abbink, Renate G. van der Molen, Natasja Dors, Caroline Lindemans, Jaap J. Boelens, Stefan Nierkens
The Innate Immune Response Characterizes Posterior Reversible Encephalopathy Syndrome
Christopher Nelke, Andreas Schulte-Mecklenbeck, Marc Pawlitzki, Leoni Rolfes, Saskia Räuber, Catharina C. Gross, Jens Minnerup, Sven G. Meuth, Heinz Wiendl, Tobias Ruck
Abnormal SCID Newborn Screening and Spontaneous Recovery Associated with a Novel Haploinsufficiency IKZF1 Mutation
Hye Sun Kuehn, Nicholas J. Gloude, David Dimmock, Mari Tokita, Meredith Wright, Sergio D. Rosenzweig, Cathleen Collins
Altered Spectrum of Lymphoid Neoplasms in a Single-Center Cohort of Common Variable Immunodeficiency with Immune Dysregulation
Claudia Wehr, Leonora Houet, Susanne Unger, Gerhard Kindle, Sigune Goldacker, Bodo Grimbacher, Andrés Caballero Garcia de Oteyza, Reinhard Marks, Dietmar Pfeifer, Alexandra Nieters, Michele Proietti, Klaus Warnatz, Annette Schmitt-Graeff
Current Spectrum of Infections in Patients with X-Linked Agammaglobulinemia
Olivier Paccoud, Nizar Mahlaoui, Despina Moshous, Claire Aguilar, Bénédicte Neven, Fanny Lanternier, Felipe Suarez, Capucine Picard, Alain Fischer, Stéphane Blanche, Marc Lecuit, Olivier Hermine, Olivier Lortholary
Genomic Spectrum and Phenotypic Heterogeneity of Human IL-21 Receptor Deficiency
Deniz Cagdas, Daniel Mayr, Safa Baris, Lisa Worley, David B. Langley, Ayse Metin, Elif Soyak Aytekin, Raziye Atan, Nurhan Kasap, Sevgi Köstel Bal, Jasmin Dmytrus, Raul Jimenez Heredia, Gulsun Karasu, Selda Hancerli Torun, Muge Toyran, Elif Karakoc-Aydiner, Daniel Christ, Baris Kuskonmaz, Duygu Uçkan-Çetinkaya, Aysegul Uner, Felicitas Oberndorfer, Ana-Iris Schiefer, Gulbu Uzel, Elissa K. Deenick, Baerbel Keller, Klaus Warnatz, Bénédicte Neven, Anne Durandy, Ozden Sanal, Cindy S. Ma, Ahmet Özen, Polina Stepensky, Ilhan Tezcan, Kaan Boztug, Stuart G. Tangye
Clinical Manifestations, Mutational Analysis, and Immunological Phenotype in Patients with RAG1/2 Mutations: First Cases Series from Mexico and Description of Two Novel Mutations
Saul Oswaldo Lugo-Reyes, Nina Pastor, Edith González-Serrano, Marco Antonio Yamazaki-Nakashimada, Selma Scheffler-Mendoza, Laura Berron-Ruiz, Guillermo Wakida, Maria Enriqueta Nuñez-Nuñez, Ana Paola Macias-Robles, Aide Tamara Staines-Boone, Edna Venegas-Montoya, Carmen Alaez-Verson, Carolina Molina-Garay, Luis Leonardo Flores-Lagunes, Karol Carrillo-Sanchez, Julie Niemela, Sergio D. Rosenzweig, Paul Gaytan, Jorge A. Yañez, Ivan Martinez-Duncker, Luigi D. Notarangelo, Sara Espinosa-Padilla, Mario Ernesto Cruz-Munoz
Clinical Features of Female Taiwanese Carriers with X-linked Chronic Granulomatous Disease from 2004 to 2019
Chao-Yi Wu, Yi-Ching Chen, Wen-I Lee, Jing-Long Huang, Li-Chen Chen, Liang-Shiou Ou, Tsung-Chieh Yao, Tang-Her Jaing, Shih-Hsiang Chen, Chi-Jou Liang, Chen-Chen Kang, Cheng-Hsun Chiu
Decreased ATM Function Causes Delayed DNA Repair and Apoptosis in Common Variable Immunodeficiency Disorders
Chantal E. Hargreaves, Silvia Salatino, Sarah C. Sasson, James E. G. Charlesworth, Elizabeth Bateman, Arzoo M. Patel, Consuelo Anzilotti, John Broxholme, Julian C. Knight, Smita Y. Patel
Steady-State Serum IgG Trough Levels Are Adequate for Pharmacokinetic Assessment in Patients with Immunodeficiencies Receiving Subcutaneous Immune Globulin
Zhaoyang Li, Barbara McCoy, Werner Engl, Leman Yel
Consensus Middle East and North Africa Registry on Inborn Errors of Immunity
Asghar Aghamohammadi, Nima Rezaei, Reza Yazdani, Samaneh Delavari, Necil Kutukculer, Ezgi Topyildiz, Ahmet Ozen, Safa Baris, Elif Karakoc-Aydiner, Sara Sebnem Kilic, Hulya Kose, Nesrin Gulez, Ferah Genel, Ismail Reisli, Kamel Djenouhat, Azzeddine Tahiat, Rachida Boukari, Samir Ladj, Reda Belbouab, Yacine Ferhani, Brahim Belaid, Reda Djidjik, Nadia Kechout, Nabila Attal, Khalissa Saidani, Ridha Barbouche, Aziz Bousfiha, Ali Sobh, Ragheed Rizk, Marwa H. Elnagdy, Mona Al-Ahmed, Salem Al-Tamemi, Gulnara Nasrullayeva, Mehdi Adeli, Maryam Al-Nesf, Amel Hassen, Cybel Mehawej, Carla Irani, Andre Megarbane, Jessica Quinn, Zahra Chavoshzadeh, Seyed Alireza Mahdaviani, Mohammamd Nabavi, Marzieh Tavakol, Nasrin Behniafard, Tooba Momen, Gholamreza Azizi, Mohammad Hassan Bemanian, Saba Arshi, Rasol Molatefi, Roya Sherkat, Afshin Shirkani, Reza Amin, Soheila Aleyasin, Reza Faridhosseini, Farahzad Jabbari-Azad, Hamid Ahanchian, Maryam Khoshkhui, Alireza Shafiei, Arash Kalantari, Iraj Mohammadzadeh, Javad Ghaffari, Taher Cheraghi, Mahboubeh Mansouri, Mehrnaz Mesdaghi, Delara Babaie, Mohammad Hossein Eslamian, Abbas Dabbaghzadeh, Mahmoud Tavassoli, Ramin Ghasemi, Rasoul Nasiri Kalmarzi, Seyed Hamidreza Mortazavi, Sara Kashef, Hossein Esmaeilzadeh, Javad Tafaroji, Abbas Khalili, Fariborz Zandieh, Mahnaz Sadeghi-Shabestari, Sepideh Darougar, Fatemeh Behmanesh, Hedayat Akbari, Mohammadreza Zandkarimi, Farhad Abolnezhadian, Abbas Fayezi, Mehdi Torabizadeh, Mojgan Moghtaderi, Habib Soheili, Akefeh Ahmadiafshar, Behzad Shakerian, Vahid Sajedi, Behrang Taghvaei, Mojgan Safari, Marzieh Heidarzadeh, Babak Ghalebaghi, Seyed Mohammad Fathi, Behzad Darabi, Kian Darabi, Saeed Bazregari, Nasrin Bazargan, Morteza Fallahpour, Alireza Khayatzadeh, Bahram Bashardoust, Homa Sadri, Mohammadali Zamani, Azam Mohsenzadeh, Sarehsadat Ebrahimi, Reza Ghaemi, Fatemeh Zare Mehrjerdi, Samin Sharafian, Seyed Hesamodin Nabavizadeh, Leila Baniadam, Fereshteh Salari, Mahsa Rekabi, Ahmad Vosughimotlagh, Mitra Tafakoridelbari, Ali Pourvali, Arezou Rezaei, Amir Ali Hamidieh, Mansoureh Shariat, Mohammad Gharagozlou, Masoud Movahedi, Nima Parvaneh, Neslihan Edeer Karaca, Guzide Aksu, Sevgi Bilgiç Eltan, Nurhan Kasap, Burcu Kolukisa, Asena Pınar Sefer, Ezgi Yalcin, Roya babayeva, Lydia Lamara Mahammed, Ahmad Al-Khabaz, László Maródi, Vicki Modell, Fred Modell, Waleed Al-Herz, Raif S. Geha, Hassan Abolhassani
A Case of Severe Combined Immunodeficiency Missed by Newborn Screening
Maleewan Kitcharoensakkul, Jahnavi Aluri, Ibrahim Elsharkawi, Ashley Steed, Christopher D. Putnam, Anil K. Swayampakula, Megan A. Cooper, Jeffrey J. Bednarski
A New Missense Mutation in CD79B Leads to Autosomal Recessive Agammaglobulinemia in Two Siblings
Steve Genebrier, Mathieu Fusaro, Nathalie Lambert, Sylvie Roullaud, Frédéric Millot, Capucine Picard
Autosomal Recessive ISG15 Deficiency Underlies Type I Interferonopathy with Systemic Lupus Erythematosus and Inflammatory Myositis
Sulaiman M. Al-Mayouf, Lujayn Akbar, Abdullatif AlEnazi, Hamoud Al-Mousa
Ledipasvir/Sofosbuvir Eradicates Hepatitis C in an Immunodeficient STAT3-GOF Patient
Julian Thalhammer, Maria Elena Maccari, Oliver Wegehaupt, Stephan Ehl, Carsten Speckmann
Anakinra for Treatment of Liver Abscesses in a Patient with a Novel CYBB Variant of Chronic Granulomatous Disease
Caroline To, Andrew Williams, Luke Droney
Epstein-Barr Virus–Negative Granulomatous Disease Due to SAP Deficiency
Takao Karasawa, Ko Kudo, Kay Tanita, Yoshihiro Takahashi, Hirokazu Kanegane, Kiminori Terui
A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis
Filipa Marujo, Simon J. Pelham, João Freixo, Ana Isabel Cordeiro, Catarina Martins, Jean-Laurent Casanova, Wei-Te Lei, Anne Puel, João Farela Neves
Dramatic Efficacy of Ibrutinib in a Schnitzler Syndrome Case with Indolent Lymphoma
Fabien Claves, Romane Siest, Christine Lefebvre, Severine Valmary-Degano, Sylvain Carras
The Seven STAT3-Related Hyper-IgE Syndromes
Ilham Fadil, Meriem Ben-Ali, Leila Jeddane, Mohamed-Ridha Barbouche, Ahmed Aziz Bousfiha
Correction to: The Seven STAT3‑Related Hyper‑IgE Syndromes
Ilham Fadil, Meriem Ben‑Ali, Leila Jeddane, Mohamed‑Ridha Barbouche, Ahmed Aziz Bousfiha
TCF3 Dominant Negative Variant Causes an Early Block in B-Lymphopoiesis and Agammaglobulinemia
Ebtehal Al Sheikh, Peter D. Arkwright, Archana Herwadkar, Tracy Hussell, Tracy A. Briggs
Skewed TCR Alpha, but not Beta, Gene Rearrangements and Lymphoma Associated with a Pathogenic TRAC Variant
Amit Rawat, Ankita Singh, Kerry Dobbs, Francesca Pala, Ottavia M. Delmonte, Pandiarajan Vignesh, Ankur Kumar Jindal, Anju Gupta, Deepti Suri, Anit Kaur, Jitendra Kumar Shandilya, Man Updesh Singh Sachdeva, Mandeep Walia, Jose R. Regueiro, Alejandro C. Briones, Luigi D. Notarangelo, Surjit Singh
DOCK2 Deficiency Diagnosed 18 Years After Hematopoietic Stem Cell Transplantation
Katherine D’Astous-Gauthier, Aléhandra Desjardins, Louis Marois, Emilia Liana Falcone, Hugo Chapdelaine
Hematopoietic Stem Cell Transplantation Cures Chronic Aichi Virus Infection in a Patient with X-linked Agammaglobulinemia
Giorgia Bucciol, Thomas Tousseyn, Katrien Jansen, Ingele Casteels, Stuart G. Tangye, Judy Breuer, Julianne R. Brown, Elke Wollants, Marc Van Ranst, Leen Moens, Djalila Mekahli, Isabelle Meyts
Inflammatory Bowel Disease and Guillain Barre Syndrome in FCHO1 Deficiency
Sezin Aydemir, Ali Islek, Serdar Nepesov, Yontem Yaman, Gokhan Baysoy, Omer Faruk Beser, Fugen Cullu Cokugras, Safa Baris, Elif Karakoc-Aydiner, Haluk Cokugras, Satanay Z. Hubrack, Yasemin Kendir Demirkol, Bernice Lo, Ayca Kiykim, Ahmet Ozen
A Family with a Novel CTLA4 Haploinsufficiency Mutation and Neurological Symptoms
Alexandros Grammatikos, Sarah Johnston, Claire M. Rice, Mark Gompels
Disseminated Tuberculosis in a Patient with Autosomal Recessive p47phox Chronic Granulomatous Disease
Ximena León-Lara, Alejandro Campos-Murguía, Pablo León-Cabral, Andrea Tello-Mercado, Noel Salgado-Nesme, Jesús Delgado de la Mora, Stéphanie Boisson- Dupuis, Jacinta Bustamante, Lizbeth Blancas-Galicia
Complicated Diagnosis and Treatment of HA20 due to Contiguous Gene Deletions involving 6q23.3
Chung Wah Wu, Ghadir Sasa, Amanda Salih, Sarah Nicholas, Tiphanie P. Vogel, Gina Cahill, Hye Sun Kuehn, Sergio D. Rosenzweig, Qing Zhou, Ivan K. Chinn, Bo Yuan