Journal of Clinical Immunology

The Journal of Clinical Immunology, “Moving On Up”: Its Impact on the Field of Inborn Errors of Immunity

• Editorial

Vincent R. Bonagura, Jean Laurent Casanova

“The Regimental Pediatrician”: Driving in the Wilds

Rolf Kostmann

“The Regimental Pediatrician”: “Dog March” with the Ranger Battalion

• Commentary

Rolf Kostmann

“The Regimental Pediatrician”: the Hungarian Professor

• Commentary

Rolf Kostmann

Recent Insights in Pyrin Inflammasome Activation: Identifying Potential Novel Therapeutic Approaches in Pyrin-Associated Autoinflammatory Syndromes

• CME Review

Flore Wouters, Jeroen Bogie, Andy Wullaert, Jeroen van der Hilst

The Human GP130 Cytokine Receptor and Its Expression—an Atlas and Functional Taxonomy of Genetic Variants

• Open Access
• CME Review

Yin-Huai Chen, Sarah van Zon, Alex Adams, Dirk Schmidt-Arras, Arian D. J. Laurence, Holm H. Uhlig

Inherited Human BCL10 Deficiencies

• CME Review

Ashwag A. Alsaidalani, Blanca García-Solís, Esraa Bukhari, Ana Van Den Rym, Eduardo López-Collazo, Silvia Sánchez-Ramón, Fernando Corvillo, Alberto López-Lera, Ana de Andrés, Rubén Martínez-Barricarte, Rebeca Perez de Diego

Modulating the PI3K Signalling Pathway in Activated PI3K Delta Syndrome: a Clinical Perspective

• Open Access
• CME Review

Lucinda J. Berglund

Chest Computed Tomography Characteristics of Critically Ill COVID-19 Patients with Auto-antibodies Against Type I Interferons

• Open Access
• Original Article

Baptiste Lafont Rapnouil, Youssef Zaarour, Romain Arrestier, Paul Bastard, Bastien Peiffer, Elsa Moncomble, Mélodie Parfait, Raphaël Bellaïche, Jean-Laurent Casanova, Armand Mekontso Dessap, Sébastien Mule, Nicolas de Prost

Fatal COVID-19 Infection in Two Children with STAT1 Gain-of-Function

• Original Article

Aidé Tamara Staines-Boone, Pandiarajan Vignesh, Miyuki Tsumura, Germán de la Garza Fernández, Reva Tyagi, Amit Rawat, Jhumki Das, Dan Tomomasa, Takaki Asano, Atsushi Hijikata, Yuridia Salazar-Gálvez, Hirokazu Kanegane, Satoshi Okada, Saul O Lugo Reyes

Impact of Exposure to Vaccination and Infection on Cellular and Antibody Response to SARS-CoV-2 in CVID Patients Through COVID-19 Pandemic

• Original Article

Giulia Anna Maria Luigia Costanzo, Carla Maria Deiana, Giuseppina Sanna, Andrea Perra, Marcello Campagna, Andrea Giovanni Ledda, Ferdinando Coghe, Vanessa Palmas, Riccardo Cappai, Aldo Manzin, Luchino Chessa, Stefano Del Giacco, Davide Firinu

Duplication of Exons 8–9 in NCF2 Leading to Incomplete Clinical Penetrance in Chronic Granulomatous Disease

• Letter to Editor

Marco Antonio Venancio Hernández, Carlos Sanchez Flores, María Jiménez Juárez, Sara Espinosa Padilla, Antonio Condino Neto, Lizbeth Blancas Galicia

Isolated Full Donor T-Cell Chimerism After Haploidentical TCRαβ/CD19 Depleted HSCT Maintains Remission of Familial HLH

• Letter to Editor

Filippo Consonni, Maria Luisa Coniglio, Beatrice Martini, Rosalba Santoro, Aurora Chinnici, Linda Beneforti, Elisa Allegro, Franco Bambi, Francesca Brugnolo, Daniela Cuzzubbo, Stefano Ermini, Stefano Frenos, Francesco Pegoraro, Maria Chiara Sanvito, Veronica Tintori, Irene Trambusti, Claudio Favre, Elena Sieni, Eleonora Gambineri

Four-Year-History of Recurrent Fever, Skin Lesions, and Liver Abscesses in a Patient with Common Variable Immune Deficiency due to Helicobacter cinaedi Infection

• Letter to Editor

Karina Rotella, Thomas D. Schiano, Maria Isabel Fiel, Hsi-en Ho, Charlotte Cunningham-Rundles

IL-4Rα Inhibition for Severe “Eosinophilic Gastroenteritis, Allergy, and Anaphylaxis” Syndrome due to a Gain-of-Function Variant in STAT6

• Letter to Editor

Stanislas Faguer, Eric Delabesse, Carle Paul, Marlène Pasquet

Inborn Errors of Immunity in Hidradenitis Suppurativa: a New Lead for HS Genetics?

• Letter to Editor

Snaigune Miskinyte, Maïa Delage, Olivier Join-Lambert, Aude Nassif, Alain Hovnanian

Proposal for a Disease Activity Score and Disease Damage Score for ADA2 Deficiency: the DADA2AI and DADA2DI

• Open Access
• Letter to Editor

Giorgia Bucciol, Amanda K. Ombrello, Eugene P. Chambers, Isabelle Meyts

Clinical Course and Family History of Adult Patient with Novel MYSM1 Variant

• Letter to Editor

Inga S. Sakovich, Emma Haapaniemi, Svetlana N. Aleshkevich, Iryna V. Pakhomava, Victoria D. Belobokova, Ekaterina A. Poliakova, Tatiana P. Volodashchik, Alexandr A. Migas, Aleksandra N. Kupchinskaya, Taisiya M. Mikhaleuskaya, Mikhail V. Belevtsev, Inna V. Proleskovskaya, Valeria Demidchik, Janna Saarela, Svetlana O. Sharapova

Pediatric Necrobiotic Xanthogranuloma as a Novel Phenotype of IKAROS Gain of Function

• Open Access
• Letter to Editor

Rachel Guess, George Harocopos, Jeffrey J. Bednarski, Lynn M. Hassmann, Tarin M. Bigley

Unusual Manifestations of APECED

• Letter to Editor

Isabelle Bosi, Wui-Kwan Wong, Shekeeb Mohammad, Philip Britton, Peter Hsu

BCL10 Deficiency Presenting as Severe Combined Immunodeficiency Escaping Newborn Screening

• Open Access
• Letter to Editor

Sarah Salou, Simon Voelkl, Baerbel Keller, Stephan Ehl, Nora Naumann-Bartsch

Human Autosomal Recessive DNA Polymerase Delta 3 Deficiency Presenting as Omenn Syndrome

• Original Article

Maria Rodrigo Riestra, Bethany A. Pillay, Mathijs Willemsen, Verena Kienapfel, Lisa Ehlers, Selket Delafontaine, Antoine Pinton, Marjon Wouters, Anneleen Hombrouck, Kate Sauer, Xavier Bossuyt, Arnout Voet, Stefaan J. Soenen, Cecilia Dominguez Conde, Giorgia Bucciol, Kaan Boztug, Stephanie Humblet-Baron, Aurore Touzart, Frédéric Rieux-Laucat, Luigi D. Notarangelo, Leen Moens, Isabelle Meyts

A Novel Biallelic LCK Variant Resulting in Profound T-Cell Immune Deficiency and Review of the Literature

• Open Access
• Original Article

Anna-Lisa Lanz, Serife Erdem, Alper Ozcan, Gulay Ceylaner, Murat Cansever, Serdar Ceylaner, Raffaele Conca, Thomas Magg, Oreste Acuto, Sylvain Latour, Christoph Klein, Turkan Patiroglu, Ekrem Unal, Ahmet Eken, Fabian Hauck

Correction to: A Novel Biallelic LCK Variant Resulting in Profound T-Cell Immune Deficiency and Review of the Literature

• Open Access
• Author Correction

Anna-Lisa Lanz, Serife Erdem, Alper Ozcan, Gulay Ceylaner, Murat Cansever, Serdar Ceylaner, Raffaele Conca, Thomas Magg, Oreste Acuto, Sylvain Latour, Christoph Klein, Turkan Patiroglu, Ekrem Unal, Ahmet Eken, Fabian Hauck

Combined Immunodeficiency Caused by a Novel Nonsense Mutation in LCK

• Open Access
• Original Article

Baerbel Keller, Shlomit Kfir-Erenfeld, Paul Matusewicz, Frederike Hartl, Atar Lev, Yu Nee Lee, Amos J. Simon, Tali Stauber, Orly Elpeleg, Raz Somech, Polina Stepensky, Susana Minguet, Burkhart Schraven, Klaus Warnatz

Ruxolitinib Rescues Multiorgan Clinical Autoimmunity in Patients with APS-1

• Open Access
• Original Article

Romain Lévy, Agathe Escudier, Paul Bastard, Coralie Briand, Laura Polivka, Athanasia Stoupa, Cécile Talbotec, Anya Rothenbuhler, Marina Charbit, Dominique Debray, Christine Bodemer, Jean-Laurent Casanova, Agnès Linglart, Bénédicte Neven

Letermovir for CMV Prophylaxis in Very High-Risk Pediatric Hematopoietic Stem Cell Transplantation Recipients for Inborn Errors of Immunity

• Original Article

Thibaut César, Minh P. Le, Roman Klifa, Martin Castelle, Benjamin Fournier, Romain Lévy, Marwa Chbihi, Virginie Courteille, Despina Moshous, Stéphane Blanche, Mickaël Alligon, Marianne Leruez-Ville, Gilles Peytavin, Pierre Frange, Bénédicte Neven

Plasma Levels of mir-34a-5p Correlate with Systemic Inflammation and Low Naïve CD4 T Cells in Common Variable Immunodeficiency

• Open Access
• Original Article

Sofia Nyström, Jonas Hultberg, Emelie Blixt, Åsa Nilsdotter-Augustinsson, Marie Larsson

OTULIN Haploinsufficiency-Related Fasciitis and Skin Necrosis Treated by TNF Inhibition

• Original Article

Rob J. W. Arts, Tristan J. van der Linden, Caspar I. van der Made, Marianne M. C. Hendriks, Wouter A. van der Heijden, Quirijn de Mast, Janneke H. M. Schuurs-Hoeijmakers, Annet Simons, András N. Spaan, Catharina M. Mulders-Manders, Frank L. van de Veerdonk

Isolated Chronic Mucocutaneous Candidiasis due to a Novel Duplication Variant of IL17RC

• Original Article

Kosuke Noma, Miyuki Tsumura, Tina Nguyen, Takaki Asano, Fumiaki Sakura, Moe Tamaura, Yusuke Imanaka, Yoko Mizoguchi, Shuhei Karakawa, Seiichi Hayakawa, Takayo Shoji, Junichi Hosokawa, Kazushi Izawa, Yun Ling, Jean-Laurent Casanova, Anne Puel, Stuart G. Tangye, Cindy S. Ma, Osamu Ohara, Satoshi Okada

Evaluation of Clinical and Immunological Alterations Associated with ICF Syndrome

• Original Article

Sevgi Bilgic Eltan, Ercan Nain, Mehmet Cihangir Catak, Ege Ezen, Asena Pınar Sefer, Nastaran Karimi, Ayca Kiykim, Burcu Kolukisa, Dilek Baser, Alper Bulutoglu, Nurhan Kasap, Melek Yorgun Altunbas, Ezgi Yalcin Gungoren, Yasemin Kendir Demirkol, Seyhan Kutlug, Gonca Hancioglu, Fatih Dilek, Alisan Yildiran, Ahmet Ozen, Elif Karakoc-Aydiner, Batu Erman, Safa Baris

Novel Compound Heterozygous ZAP70 R37G A507T Mutations in Infant with Severe Immunodeficiency

• Original Article

Nathalia Benavides, Jason C. White, Maria L. Sanmillan, Morgan Thomas, Trong Le, Emi Caywood, Claudio G. Giraudo

Inborn Errors of Immunity and Efforts to Diagnose Affected Children in the Absence of Training and Specialty Practice in Clinical Immunology in Ethiopia: a Brief Report

• Original Article

Tinsae Alemayehu, Yemisrach Mekonnen Asfaw, Abate Yeshidinber Weldetsadik

Clinical and Immunological Features, Genetic Variants, and Outcomes of Patients with CD40 Deficiency

• Original Article

Aaqib Zaffar Banday, Rahila Nisar, Pratap Kumar Patra, Anit Kaur, Rohit Sadanand, Chakshu Chaudhry, Syed Tariq Ahmed Bukhari, Saquib Zaffar Banday, Dharmagat Bhattarai, Luigi D. Notarangelo

Prevalence and Characteristics of Non-tuberculous Mycobacteria (NTM) Infection in Recipients of Allogeneic Hematopoietic Stem Cell Transplantation: a Systematic Review and Meta-analysis

• Open Access
• Original Article

Bianca Laura Cinicola, Giorgio Ottaviano, Ilie Fadzilah Hashim, Zarina Thasneem Zainudeen, Intan Juliana Abd Hamid, Reem Elfeky

A Phase 1 Open-Label Study to Assess the Tolerability, Safety, and Immunogenicity of Hyaluronidase-Facilitated Subcutaneous Immunoglobulin 20% in Healthy Adults

• Open Access
• Original Article

Andras Nagy, Kimberly Duff, Alexander Bauer, Fred Okonneh, Juan Carlos Rondon, Leman Yel, Zhaoyang Li

CVID-Associated Intestinal Disorders in the USIDNET Registry: An Analysis of Disease Manifestations, Functional Status, Comorbidities, and Treatment

• Original Article

Lauren E. Franzblau, Ramsay L. Fuleihan, Charlotte Cunningham-Rundles, Christian A. Wysocki

CXCL9 as a Reliable Biomarker for Discriminating Anti–IFN-γ-Autoantibody–Associated Lymphadenopathy that Mimics Lymphoma

• Original Article

Chang-Tsu Yuan, Wan-Ting Huang, Chia-Lang Hsu, Hsuan Wang, Yi-Hua Pan, Un-In Wu, Jann-Tay Wang, Wang-Huei Sheng, Yee-Chun Chen, Shan-Chwen Chang

IL4Rα and IL17A Blockade Rescue Autoinflammation in SOCS1 Haploinsufficiency

• Original Article

Conor Gruber, Angelica Lee, Sofija Buta, Saakshi Khattri, Alice B. Gottlieb, Jacqueline M. Frost, Anne M. Bowcock, Hsi-en Ho, Dusan Bogunovic

Filaggrin-Associated Atopic Skin, Eye, Airways, and Gut Disease, Modifying the Presentation of X-Linked Reticular Pigmentary Disorder (XLPDR)

• Original Article

Margaret W. Y. Li, Leslie Burnett, Pei Dai, Danielle T. Avery, Tahereh Noori, Ilia Voskoboinik, Parth R. Shah, Artiene Tatian, Stuart G. Tangye, Paul E. Gray, Cindy S. Ma

Reducing Mortality and Morbidity in Children with Severe Combined Immunodeficiency in Switzerland: the Role of Newborn Screening

• Open Access
• Original Article

Maarja Soomann, Seraina Prader, Aline Pinto Monteiro, Ulrike Zeilhofer, Mathias Hauri-Hohl, Tayfun Güngör, Jana Pachlopnik Schmid, Johannes Trück, Matthias Felber