Ausgabe 1/2024
Inhalt (41 Artikel)
The Journal of Clinical Immunology, “Moving On Up”: Its Impact on the Field of Inborn Errors of Immunity
Vincent R. Bonagura, Jean Laurent Casanova
Recent Insights in Pyrin Inflammasome Activation: Identifying Potential Novel Therapeutic Approaches in Pyrin-Associated Autoinflammatory Syndromes
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
Yin-Huai Chen, Sarah van Zon, Alex Adams, Dirk Schmidt-Arras, Arian D. J. Laurence, Holm H. Uhlig
Inherited Human BCL10 Deficiencies
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
Lucinda J. Berglund
Chest Computed Tomography Characteristics of Critically Ill COVID-19 Patients with Auto-antibodies Against Type I Interferons
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
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
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
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
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
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
Stanislas Faguer, Eric Delabesse, Carle Paul, Marlène Pasquet
Inborn Errors of Immunity in Hidradenitis Suppurativa: a New Lead for HS Genetics?
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
Giorgia Bucciol, Amanda K. Ombrello, Eugene P. Chambers, Isabelle Meyts
Clinical Course and Family History of Adult Patient with Novel MYSM1 Variant
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
Rachel Guess, George Harocopos, Jeffrey J. Bednarski, Lynn M. Hassmann, Tarin M. Bigley
Unusual Manifestations of APECED
Isabelle Bosi, Wui-Kwan Wong, Shekeeb Mohammad, Philip Britton, Peter Hsu
BCL10 Deficiency Presenting as Severe Combined Immunodeficiency Escaping Newborn Screening
Sarah Salou, Simon Voelkl, Baerbel Keller, Stephan Ehl, Nora Naumann-Bartsch
Human Autosomal Recessive DNA Polymerase Delta 3 Deficiency Presenting as Omenn Syndrome
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
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
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
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
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
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
Sofia Nyström, Jonas Hultberg, Emelie Blixt, Åsa Nilsdotter-Augustinsson, Marie Larsson
OTULIN Haploinsufficiency-Related Fasciitis and Skin Necrosis Treated by TNF Inhibition
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
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
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
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
Tinsae Alemayehu, Yemisrach Mekonnen Asfaw, Abate Yeshidinber Weldetsadik
Clinical and Immunological Features, Genetic Variants, and Outcomes of Patients with CD40 Deficiency
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
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
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
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
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
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)
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
Maarja Soomann, Seraina Prader, Aline Pinto Monteiro, Ulrike Zeilhofer, Mathias Hauri-Hohl, Tayfun Güngör, Jana Pachlopnik Schmid, Johannes Trück, Matthias Felber