Issue 8/2021
Content (31 Articles)
SARS-CoV-2 Vaccine Induced Atypical Immune Responses in Antibody Defects: Everybody Does their Best
Ane Fernandez Salinas, Eva Piano Mortari, Sara Terreri, Concetta Quintarelli, Federica Pulvirenti, Stefano Di Cecca, Marika Guercio, Cinzia Milito, Livia Bonanni, Stefania Auria, Laura Romaggioli, Giuseppina Cusano, Christian Albano, Salvatore Zaffina, Carlo Federico Perno, Giuseppe Spadaro, Franco Locatelli, Rita Carsetti, Isabella Quinti
Longitudinal Analysis of Inflammatory Response to SARS-CoV-2 in the Upper Respiratory Tract Reveals an Association with Viral Load, Independent of Symptoms
Diem-Lan Vu, Paola Martinez-Murillo, Fiona Pigny, Maria Vono, Benjamin Meyer, Christiane S. Eberhardt, Sylvain Lemeille, Elodie Von Dach, Géraldine Blanchard-Rohner, Isabella Eckerle, Angela Huttner, Claire-Anne Siegrist, Laurent Kaiser, Arnaud M. Didierlaurent
Pre-existing Autoantibodies Neutralizing High Concentrations of Type I Interferons in Almost 10% of COVID-19 Patients Admitted to Intensive Care in Barcelona
Xavier Solanich, Raúl Rigo-Bonnin, Victor-David Gumucio, Paul Bastard, Jérémie Rosain, Quentin Philippot, Xosé-Luis Perez-Fernandez, Maria-Paz Fuset-Cabanes, Miguel-Ángel Gordillo-Benitez, Guillermo Suarez-Cuartin, Enric Boza-Hernandez, Antoni Riera-Mestre, Alba Parra-Martínez, Roger Colobran, Arnau Antolí, Sergio Navarro, Gemma Rocamora-Blanch, Mario Framil, Laura Calatayud, Xavier Corbella, Jean-Laurent Casanova, Francisco Morandeira, Joan Sabater-Riera
Self-Limited COVID-19 in a Patient with Artemis Hypomorphic SCID
Stanislaw J. Gabryszewski, Ross N. England, Di Sun, Tatiana Londoño Gentile, William Hochgertel, Soma Jyonouchi, Michael Silverman, Theoklis Zaoutis, Kathleen E. Sullivan, Sarah E. Henrickson
Prolonged Fecal Shedding of SARS-CoV-2 in Asymptomatic Children with Inborn Errors of Immunity
Madhu Chhanda Mohanty, Prasad D. Taur, Unnati Prashant Sawant, Reetika Malik Yadav, Varsha Potdar
Haploidentical Hematopoietic Cell Transplantation Using Post-transplant Cyclophosphamide for Children with Non-malignant Diseases
Hasan Hashem, Rula Najjar, Mayada Abu-Shanap, Eman Khattab, Rawad Rihani, Abdelghani Tbakhi, Iyad Sultan
Second Tier Testing to Reduce the Number of Non-actionable Secondary Findings and False-Positive Referrals in Newborn Screening for Severe Combined Immunodeficiency
Maartje Blom, Ingrid Pico-Knijnenburg, Sandra Imholz, Lotte Vissers, Janika Schulze, Jeannette Werner, Robbert Bredius, Mirjam van der Burg
Outcome of Hematopoietic Stem Cell Transplantation in patients with Mendelian Susceptibility to Mycobacterial Diseases
Nesrine Radwan, Zohreh Nademi, Su Han Lum, Terry Flood, Mario Abinun, Stephen Owens, Eleri Williams, Andrew R. Gennery, Sophie Hambleton, Mary A. Slatter
NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency
Dominic Lenz, Jens Pahl, Fabian Hauck, Seham Alameer, Meena Balasubramanian, Ivo Baric, Nikolas Boy, Joseph A. Church, Ellen Crushell, Anke Dick, Felix Distelmaier, Jidnyasa Gujar, Giuseppe Indolfi, Eberhard Lurz, Bianca Peters, Tobias Schwerd, Daniele Serranti, Stefan Kölker, Christoph Klein, Georg F. Hoffmann, Holger Prokisch, Johann Greil, Adelheid Cerwenka, Thomas Giese, Christian Staufner
CD8 + T Cells Exhibit an Exhausted Phenotype in Hemophagocytic Lymphohistiocytosis
Madhura G. Kelkar, Umair Ahmad Bargir, Reetika Malik-Yadav, Maya Gupta, Aparna Dalvi, Neha Jodhawat, Shweta Shinde, Manisha R. Madkaikar
Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis
Natalie Frede, Jessica Rojas-Restrepo, Andrés Caballero Garcia de Oteyza, Mary Buchta, Katrin Hübscher, Laura Gámez-Díaz, Michele Proietti, Shiva Saghafi, Zahra Chavoshzadeh, Pere Soler-Palacin, Nermeen Galal, Mehdi Adeli, Juan Carlos Aldave-Becerra, Moudjahed Saleh Al-Ddafari, Ömür Ardenyz, T. Prescott Atkinson, Fulya Bektas Kut, Fatih Çelmeli, Helen Rees, Sara S. Kilic, Ilija Kirovski, Christoph Klein, Robin Kobbe, Anne-Sophie Korganow, Desa Lilic, Peter Lunt, Niten Makwana, Ayse Metin, Tuba Turul Özgür, Ayse Akman Karakas, Suranjith Seneviratne, Roya Sherkat, Ana Berta Sousa, Ekrem Unal, Turkan Patiroglu, Volker Wahn, Horst von Bernuth, Margo Whiteford, Rainer Doffinger, Zineb Jouhadi, Bodo Grimbacher
A Novel STK4 Mutation Impairs T Cell Immunity Through Dysregulation of Cytokine-Induced Adhesion and Chemotaxis Genes
Andrea Guennoun, Salim Bougarn, Taushif Khan, Rafah Mackeh, Mahbuba Rahman, Fatima Al-Ali, Manar Ata, Waleed Aamer, Debra Prosser, Tanwir Habib, Evonne Chin-Smith, Khawla Al-Darwish, Qian Zhang, Alya Al-Shakaki, Amal Robay, Ronald G. Crystal, Khalid Fakhro, Amal Al-Naimi, Eman Al Maslamani, Amjad Tuffaha, Ibrahim Janahi, Mohammad Janahi, Donald R. Love, Mohammed Yousuf Karim, Bernice Lo, Amel Hassan, Mehdi Adeli, Nico Marr
Chromatin Modifications in 22q11.2 Deletion Syndrome
Zhe Zhang, LiHua Shi, Li Song, Kelly Maurer, Xue Zhao, Elaine H. Zackai, Daniel E. McGinn, T. Blaine Crowley, Donna M. McDonald McGinn, Kathleen E. Sullivan
Hematopoietic Cell Transplantation for Severe Combined Immunodeficiency Patients: a Japanese Retrospective Study
Satoshi Miyamoto, Katsutsugu Umeda, Mio Kurata, Akira Nishimura, Masakatsu Yanagimachi, Masataka Ishimura, Maho Sato, Tomonari Shigemura, Motohiro Kato, Yoji Sasahara, Akihiro Iguchi, Takashi Koike, Yoshiyuki Takahashi, Michiko Kajiwara, Masami Inoue, Yoshiko Hashii, Hiromasa Yabe, Koji Kato, Yoshiko Atsuta, Kohsuke Imai, Tomohiro Morio
Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia
Stefan Zielen, Ruth Pia Duecker, Sandra Woelke, Helena Donath, Sharhzad Bakhtiar, Aileen Buecker, Hermann Kreyenberg, Sabine Huenecke, Peter Bader, Nizar Mahlaoui, Stephan Ehl, Sabine M. El-Helou, Barbara Pietrucha, Alessandro Plebani, Michiel van der Flier, Koen van Aerde, Sara S. Kilic, Shereen M. Reda, Larysa Kostyuchenko, Elizabeth McDermott, Nermeen Galal, Claudio Pignata, Juan Luis Santos Pérez, Hans-Juergen Laws, Tim Niehues, Necil Kutukculer, Markus G. Seidel, Laura Marques, Peter Ciznar, John David M. Edgar, Pere Soler-Palacín, Horst von Bernuth, Renate Krueger, Isabelle Meyts, Ulrich Baumann, Maria Kanariou, Bodo Grimbacher, Fabian Hauck, Dagmar Graf, Luis Ignacio Gonzalez Granado, Seraina Prader, Ismail Reisli, Mary Slatter, Carlos Rodríguez-Gallego, Peter D. Arkwright, Claire Bethune, Elena Deripapa, Svetlana O. Sharapova, Kai Lehmberg, E. Graham Davies, Catharina Schuetz, Gerhard Kindle, Ralf Schubert
Is There a Clinical Significance of Very Low Serum Immunoglobulin E Level?
Serdar Al, Suna Asilsoy, Nevin Uzuner, Gizem Atakul, Özge Atay, Özge Kangallı, Işık Odaman Al, Özkan Karaman
Determinants and Reference Ranges of Serum Immunoglobulins in Middle-Aged and Elderly Individuals: a Population-Based Study
Samer Raza Khan, Layal Chaker, Mohammad Arfan Ikram, Robin Patrick Peeters, Petrus Martinus van Hagen, Virgil Alain Silvester Hovestadt Dalm
Intrinsic Defects in B Cell Development and Differentiation, T Cell Exhaustion and Altered Unconventional T Cell Generation Characterize Human Adenosine Deaminase Type 2 Deficiency
Jin Yan Yap, Leen Moens, Ming-Wei Lin, Alisa Kane, Anthony Kelleher, Catherine Toong, Kathy H.C. Wu, William A. Sewell, Tri Giang Phan, Georgina E. Hollway, Karen Enthoven, Paul E. Gray, Jose Casas-Martin, Carine Wouters, Lien De Somer, Michael Hershfield, Giorgia Bucciol, Selket Delafontaine, Cindy S. Ma, Stuart G. Tangye, Isabelle Meyts
Long-Term Efficacy of Anakinra in Cryopyrin-Associated Periodic Syndrome: Focus on Destructive Arthropathy
Young Ho Kim, Bong Jik Kim, Jinhee Han, Byung Yoon Choi, Soyoung Lee
Perceptions Around Lung Transplant–Associated Hypogammaglobulinemia
Joey Lew, Megan Casey, Lorriana E. Leard, Steven Hays, Iris M. Otani
Aberrant Immunoglobulin Kappa Locus Rearrangement in a Patient with CARD11-Related B Cell Lymphocytosis
Jackie L. Ludgate, Robert J. Weeks, Ian M. Morison
A Complex Infectious, Inflammatory, and Autoimmune Phenotype Reveals 22q11.2 Deletion Syndrome in an Adult
Thibault Comont, Emmanuel Treiner, Jean-Thomas Giraud, Mathieu Fusaro, Capucine Picard
Severe Combined Immunodeficiency (SCID)—the Irish Experience
Heather Burns, Abigail Collins, Paul Marsden, Terence J. Flood, Mary A. Slatter, Claire Booth, Jinhua Xu-Bayford, Timothy Ronan Leahy
Hematopoietic Cell Transplantation Ameliorates Autoinflammation in A20 Haploinsufficiency
Mayuka Shiraki, Eleri Williams, Norifumi Yokoyama, Kunihiro Shinoda, Zohreh Nademi, Kana Matsumoto, Hiroshi Nihira, Yoshitaka Honda, Kazushi Izawa, Ryuta Nishikomori, Mary A. Slatter, Andrew J. Cant, Andrew R. Gennery, Hidenori Ohnishi, Hirokazu Kanegane
Undetectable NK Cells due to the FCGR3A Variant, L66H, Which May Not Be Directly Disease-Causing
Neema Izadi, Miao Sun, Emily M. Mace, Maurice R. G. O’Gorman, Joseph A. Church
Argentinian X-MAID Siblings with One of Them Manifesting a Rare Ophthalmological Complication
Luciano Urdinez, Veronica Goris, Jorgelina Falbo, Matias Oleastro, Silvia Danielian
Pneumococcal Antibody Function for Immunologic Evaluation: Normal Results in Older Adults, and a Novel Analytical Model for Vaccine Response
David LaFon, Young-il Kim, Robert Burton, Mark Dransfield, Moon Nahm
X-linked Chronic Granulomatous Disease Presenting with Mediastinal Lipoblastoma and Adjacent Pneumonia
Tarin M. Bigley, Zhimin Song, Rachel C. Orscheln, David B. Wilson, Baddr A. Shakhsheer, Mai He, Stuart C. Sweet, Mary C. Dinauer, Maleewan Kitcharoensakkul
Anti-voltage-Gated Potassium Channel (VGKC) Antibodies and Acquired Neuromyotonia in Patients with Immune Dysregulation, Polyendocrinopathy, Enteropathy X-Lined (IPEX) Syndrome
Natasha Moseley, Jovanka King, Ben Van Dort, Simon Williams, Victoria Rodriguez-Casero, Shanti Ramachandran, Sharon Choo, Theresa Cole, Andrew McLean-Tooke
Late-Onset Progressive Multifocal Leukoencephalopathy (PML) and Lymphoma in a 65-Year-Old Patient with XIAP Deficiency
Julie Seguier, Antoine Briantais, Mikael Ebbo, Benoit Meunier, Thérèse Aurran, Stéphanie Coze, Elsa Kaphan, Benjamin De Sainte Marie, Zineb Sbihi, Sylvain Latour, Nadine Cerf-Bensussan, Capucine Picard, Frédéric Vély, Vincent Barlogis, Nicolas Schleinitz
Correction to: T Cell‑Epstein‑Barr Virus–Associated Hemophagocytic Lymphohistiocytosis (HLH) Occurs in Non‑Asians and Is Associated with a T Cell Activation State that Is Comparable to Primary HLH
Oded Shamriz, Deepak Kumar, Jenny Shim, Michael Briones, Maa‑Ohui Quarmyne, Satheesh Chonat, Laura Lucas, Holly Edington, Michael H. White, Advay Mahajan, Sunita Park, Shanmuganathan Chandrakasan