Ausgabe 6/2023
Inhalt (51 Artikel)
Inborn Errors of Immunity in Hidradenitis Suppurativa Pathogenesis and Disease Burden
Annelise Colvin, Lynn Petukhova
MECOM Deficiency: from Bone Marrow Failure to Impaired B-Cell Development
Richard A. Voit, Vijay G. Sankaran
Monoclonal Antibodies for COVID-19 in X-linked Agammaglobulinemia: a Case Series
Marie-Lee Simard, Marc-Antoine Nadeau, Amélie Gauthier, Guilhem Cros, Aubert Lavoie
Immune Response Against SARS-CoV-2 Infection and Vaccination in a CD8α-Deficient Patient
Daniel Arroyo-Sánchez, Joanna Luczkowiak, Rafael Delgado, Oscar Cabrera-Marante, Estela Paz-Artal
SARS-CoV-2 Antibodies in Commercial Immunoglobulin Products Show Markedly Reduced Cross-reactivities Against Omicron Variants
Hannes Lindahl, Puran Chen, Mikael Åberg, Hans-Gustaf Ljunggren, Marcus Buggert, Soo Aleman, C. I. Edvard Smith, Peter Bergman
Persistent SARS-CoV-2 PCR Positivity Despite Anti-viral Treatment in Immunodeficient Patients
Michele Chan, Me Me Nay Linn, Thomas O’Hagan, José Afonso Guerra-Assunção, Angie Lackenby, Sarita Workman, Anna Dacre, Siobhan O. Burns, Judith Breuer, Jennifer Hart, Susan Tadros, David M. Lowe
Autoantibodies Neutralizing Type I IFNs in the Bronchoalveolar Lavage of at Least 10% of Patients During Life-Threatening COVID-19 Pneumonia
Quentin Philippot, Arnaud Fekkar, Adrian Gervais, Tom Le Voyer, Leonoor S. Boers, Clément Conil, Lucy Bizien, Justin de Brabander, Jan Willem Duitman, Alessia Romano, Jérémie Rosain, Marion Blaize, Mélanie Migaud, Maxime Jeljeli, Boualem Hammadi, Aurore Desmons, Astrid Marchal, Esther J. Nossent, Anno Saris, Heder De Vries, Lilian J. Meijboom, Siebe G. Blok, Alex R. Schuurman, Tom D. Y. Reijnders, F. Hugenholtz, Juan J. Garcia Vallejo, Hetty Bontkes, Alexander P. J. Vlaar, Joost Wiersinga, René Lutter, Tom van der Poll, Harm Jan Bogaard, Robert F. J. Kullberg, Shiqi Zhang, Esther J. Nossent, Leo M. A. Heunks, Pieter Roel Tuinman, Peter I. Bonta, Laurent Abel, Saleh Al-Muhsen, Andrés A. Arias, Dusan Bogunovic, Alexandre Bolze, Ahmed A. Bousfiha, Davood Mansouri, Isabelle Meyts, Rebeca Perez de Diego, Vanessa Sancho-Shimizu, András N. Spaan, Stuart G. Tangye, Shen-Ying Zhang, Helen C. Su, Julien Mayaux, Qian Zhang, Emmanuelle Jouanguy, Raphael Borie, Bruno Crestani, Charles Edouard Luyt, Homa Adle-Biassette, Damien Sene, Bruno Megarbane, Aurélie Cobat, Paul Bastard, Lieuwe D. J. Bos, Jean-Laurent Casanova, Anne Puel
Immune Responses 6 Months After mRNA-1273 COVID-19 Vaccination and the Effect of a Third Vaccination in Patients with Inborn Errors of Immunity
Leanne P. M. van Leeuwen, Marloes Grobben, Corine H. GeurtsvanKessel, Pauline M. Ellerbroek, Godelieve J. de Bree, Judith Potjewijd, Abraham Rutgers, Hetty Jolink, Frank L. van de Veerdonk, Marit J. van Gils, Rory D. de Vries, Virgil A. S. H. Dalm, Eric C. M. van Gorp, Faye de Wilt, Susanne Bogers, Lennert Gommers, Daryl Geers, Marianne W. van der Ent, P. Martin van Hagen, Jelle W. van Haga, Bregtje A. Lemkes, Annelou van der Veen, Rogier W. Sanders, Karlijn van der Straten, Judith A. Burger, Jacqueline van Rijswijk, Khadija Tejjani, Joey H. Bouhuijs, Karina de Leeuw, Annick A. J. M. van de Ven, S. F. J. de Kruijf-Bazen, Pieter van Paassen, Lotte Wieten, Petra H. Verbeek-Menken, Annelies van Wengen, Anke H. W. Bruns, Helen L. Leavis, Stefan Nierkens
Steroid-Responsive Pulmonary Hypertension in a Pediatric Patient with Chronic Granulomatous Disease and Histoplasmosis
Leslie A. Fogel, R. Mark Grady, Rachel C. Orscheln, Jeffrey B. Bednarski, Mai He, Maleewan Kitcharoensakkul
Novel NF-kappa B Inhibitor Alpha Gain-of-Function Variant in an Infant with Lymphocytosis and Recurrent Serratia Bacteremia
Lauren M. Gunderman, Takaki Asano, Jean-Laurent Casanova, Bertrand Boisson, Amer Khojah
First Use of Thymus Transplantation in PAX1 Deficiency
Alexandra Y. Kreins, Austen Worth, Sujal Ghosh, Reem W. Mohammed, E. Graham Davies
Novel Compound Heterozygous CYBA Mutations Causing Neonatal-Onset Chronic Granulomatous Disease
Liang Zhang, Lang Yu, Junshuai Li, Zhihui Li, Xiaodong Zhao
Novel Functional Assay to Characterize Mutations in Alternative Pathway of Complement
Gloria F. Gerber, Xiang-Zuo Pan, Howard M. Lederman, Tammy M. Brady, Robert A. Brodsky
Case of Fatal Meningitis in an Adult Patient with IRAK4 Deficiency
Nisha Verma, Susan Tadros, Sameer Bahal, David M. Lowe, Siobhan O. Burns
Homozygous RMRP Promoter Duplications Cause Severely Reduced Transcript Abundance and SCID Associated with Cartilage Hair Hypoplasia
Ryan Tan, Henry Y. Lu, Mehul Sharma, Harkiran Sandhu, Kevin C. Harris, Scott B. Cameron, Audi Setiadi, Kyla J. Hildebrand, Jacob Rozmus, Stuart E. Turvey, Catherine M. Biggs
Lethal Interstitial Lung Disease Associated with a Gain-of-Function Mutation in IFIH1
Yoshiko Kida, Takehiko Doi, Yusuke Imanaka, Vishwa Jeet Amatya, Nobuaki Shime, Satoshi Okada
Whole Exome Sequencing Reveals Pathogenic Variants in ADA2 and FAS Causing DADA2 and ALPS
Terrie S. Ahn, Pui Y. Lee, Liang Chen, Samira Nazzar-Romero, Alexis V. Stephens, Deborah K. McCurdy, Maria I. Garcia-Lloret, Lisa A. Kohn
The Impact of the Russian Invasion on Healthcare of Patient with Inborn Errors of Immunity and on the Professional Activity of Immunologists in Ukraine
Oksana Boyarchuk, Yuriy Stepanovskyy, Oksana Strelnykova
STAT1 Gain-of-Function Leading to Clinical Behçet’s Syndrome
Jahnavi Aluri, Erica G. Schmitt, Matthew Du, Ana Kolicheski, Carrie C. Coughlin, Nermina Saucier, Ofer Zimmerman, Megan A. Cooper
Novel NFKB2 Pathogenic Variants in Two Unrelated Patients with Common Variable Immunodeficiency
Kruthika Sundaram, Micol Ferro, Dorothea Grosse-Kreul, Terrence Hunter, Helene Martini, Frances Smith, Nisha Verma, Ioasaf Karafotias, Padmalal Gurugama, Barnaby Clark, Grant Hayman, Mohammad A. A. Ibrahim
Gain-of-function of MEFV Mutation Causes Very Early Onset Inflammatory Bowel Disease
Qintao Wang, Xiang Chen, Youyou Luo, Jie Chen, Xiaomin Yu
Prolonged Remission of Azole-Resistant Lung Aspergillosis with Olorofim, in an Adolescent with X-Linked Chronic Granulomatous Disease
Victor Michel, Nizar Mahlaoui, Marie Elisabeth Bougnoux, Dea Garcia-Hermoso, Fanny Lanternier, Romain Lévy
A New Patient with p40phox Deficiency and Chronic Immune Thrombocytopenia
Anna-Lena Neehus, Mathieu Fusaro, Christine Bodemer, Marie Roelens, Adrian Gervais, Jean-Laurent Casanova, Romain Lévy, Jacinta Bustamante
JAKi Salvage Therapy Followed by Curative Cord Blood Transplantation in a XIAP-Deficient Infant with Relapsing HLH
Maria Elena Maccari, Camille Tron, Carsten Speckmann, Julian Thalhammer, Stephan Ehl, Anke Peters, Brigitte Strahm
Successful Rezafungin Treatment of an Azole-Resistant Chronic Mucocutaneous Candidiasis in a STAT-1 Gain-of-Function Patient
Cléa Melenotte, Robert Ratiney, Olivier Hermine, Marie-Elisabeth Bougnoux, Fanny Lanternier
A Toolkit for Monitoring Immunoglobulin G Levels from Dried Blood Spots of Patients with Primary Immunodeficiencies
Hanna Haberstroh, Aleksandra Hirsch, Sigune Goldacker, Norbert Zessack, Klaus Warnatz, Bodo Grimbacher, Ulrich Salzer
Multiple Immune Defects in Two Patients with Novel DOCK2 Mutations Result in Recurrent Multiple Infection Including Live Attenuated Virus Vaccine
Wenhui Li, Yuting Sun, Lang Yu, Ran Chen, Rui Gan, Luyao Qiu, Gan Sun, Junjie Chen, Lina Zhou, Yuan Ding, Hongqiang Du, Zhou Shu, Zhiyong Zhang, Xuemei Tang, Yongwen Chen, Xiaodong Zhao, Qin Zhao, Yunfei An
Fecal Immunoglobulin Levels as a Modifier of the Gut Microbiome in Patients with Common Variable Immunodeficiency
Christina Nöltner, Alla Bulashevska, Katrin Hübscher, Hanna Haberstroh, Bodo Grimbacher, Michele Proietti
Perceived Sleep Quality in Individuals with Inborn Errors of Immunity
Kerri L. Sowers, Adel Sawaged, Brian Bowen
Increased Plasma Levels of Triglyceride-Enriched Lipoproteins Associate with Systemic Inflammation, Lipopolysaccharides, and Gut Dysbiosis in Common Variable Immunodeficiency
Magnhild E. Macpherson, Tonje Skarpengland, Johannes R. Hov, Trine Ranheim, Beate Vestad, Tuva B. Dahl, Mai S. A. Fraz, Annika E. Michelsen, Kirsten B. Holven, Børre Fevang, Rolf K. Berge, Pål Aukrust, Bente Halvorsen, Silje F. Jørgensen
Allogeneic Hematopoietic Stem Cell Transplantation Activity in Inborn Errors of Immunity in Russian Federation
Alexandra Laberko, Anna Mukhinа, Elena Machneva, Olga Pashchenko, Tatiana Bykova, Larisa Vahonina, Gleb Bronin, Yulia Skvortsova, Elena Skorobogatova, Irina Kondratenko, Larisa Fechina, Anna Shcherbina, Ludmila Zubarovskaya, Dmitry Balashov, Alexander Rumiantsev
Clinical and Osteopetrosis-Like Radiological Findings in Patients with Leukocyte Adhesion Deficiency Type III
Ayca Burcu Kahraman, Ismail Yaz, Rahsan Gocmen, Selin Aytac, Ayse Metin, Sara Sebnem Kilic, Ilhan Tezcan, Deniz Cagdas
Facilitated Subcutaneous Immunoglobulin Treatment in Patients with Immunodeficiencies: the FIGARO Study
Michael Borte, Leif G. Hanitsch, Nizar Mahlaoui, Maria Fasshauer, Dörte Huscher, Matthaios Speletas, Maria Dimou, Marta Kamieniak, Corinna Hermann, David Pittrow, Cinzia Milito
A Novel Mutation Leading to Wiskott-Aldrich Syndrome in an Ethiopian Boy: a Case Report and a Review of Literature
Tinsae Alemayehu, Donald C. Vinh
Inborn Error of STAT2-Dependent IFN-I Immunity in a Patient Presented with Hemophagocytic Lymphohistiocytosis and Multisystem Inflammatory Syndrome in Children
Marta López-Nevado, Julián Sevilla, Patricia Almendro-Vázquez, Francisco J. Gil-Etayo, Sara Garcinuño, Antonio Serrano-Hernández, Estela Paz-Artal, Luis I. González-Granado, Luis M. Allende
The GAIN Registry — a New Prospective Study for Patients with Multi-organ Autoimmunity and Autoinflammation
Paulina Staus, Stephan Rusch, Sabine El-Helou, Gabriele Müller, Máté Krausz, Ulf Geisen, Andrés Caballero-Oteyza, Renate Krüger, Shahrzad Bakhtiar, Min Ae Lee-Kirsch, Maria Fasshauer, Ulrich Baumann, Bimba Franziska Hoyer, João Farela Neves, Michael Borte, Maria Carrabba, Fabian Hauck, Stephan Ehl, Peter Bader, Horst von Bernuth, Faranaz Atschekzei, Mikko R. J. Seppänen, Klaus Warnatz, Alexandra Nieters, Gerhard Kindle, Bodo Grimbacher
The Clinical Significance and Prognostic Role of Whole-Blood Epstein-Barr Virus DNA in Lymphoma-Associated Hemophagocytic Lymphohistiocytosis
Jing Zhang, Shuchao Qin, Ze Jin, Qingqing Chen, Lingxiao Xing, Tonglu Qiu, Yi Xia, Jinhua Liang, Huayuan Zhu, Li Wang, Lei Fan, Wei Xu, Jianyong Li, Yi Miao
Dysregulated Lymphocyte Antigen Receptor Signaling in Common Variable Immunodeficiency with Granulomatous Lymphocytic Interstitial Lung Disease
Victor G. Lui, Tusharkanti Ghosh, Amy Rymaszewski, Shaoying Chen, Ryan M. Baxter, Daniel S. Kong, Debashis Ghosh, John M. Routes, James W. Verbsky, Elena W. Y. Hsieh
JAKs and STATs from a Clinical Perspective: Loss-of-Function Mutations, Gain-of-Function Mutations, and Their Multidimensional Consequences
Nils Ott, Laura Faletti, Maximilian Heeg, Virginia Andreani, Bodo Grimbacher
Quality of Life Evaluation in Saudi Arabian Pediatric Patients with Primary Immunodeficiency Diseases Receiving 20% Subcutaneous IgG Infusions at Home
Bandar Al-Saud, Nora AlRumayyan, Areej Alfattani, Sawsan Abu Awwad, Dema Al Saud, Reem Mohammed, Sultan Albuhairi, Sahar Elshorbagi, Sakra S. Balhareth, Hasan Al-Dhekri, Rand Arnaout, Edward B. De Vol, Hamoud Al-Mousa
An early-onset SLE patient with a novel paternal inherited BACH2 mutation
Lina Zhou, Gan Sun, Ran Chen, Junjie Chen, Shuyu Fang, Qiling Xu, Wenjing Tang, Rongxin Dai, Zhiyong Zhang, Yunfei An, Xuemei Tang, Xiaodong Zhao
Nomogram for Predicting Early Mortality after Umbilical Cord Blood Transplantation in Children with Inborn Errors of Immunity
Ping Wang, Chao Liu, Zhongling Wei, Wenjin Jiang, Hua Sun, Yuhuan Wang, Jia Hou, Jinqiao Sun, Ying Huang, Hongsheng Wang, Yao Wang, Xinjun He, Xiaochuan Wang, Xiaowen Qian, Xiaowen Zhai
CTLA4-Ig Effectively Controls Clinical Deterioration and Immune Condition in a Murine Model of Foxp3 Deficiency
Margaux Gerbaux, Evelyne Roos, Mathijs Willemsen, Frederik Staels, Julika Neumann, Leoni Bücken, Jeason Haughton, Lidia Yshii, James Dooley, Susan Schlenner, Stephanie Humblet-Baron, Adrian Liston
Insights into the expanding intestinal phenotypic spectrum of SOCS1 haploinsufficiency and therapeutic options
Marco M. Rodari, Dominique Cazals-Hatem, Mathieu Uzzan, Nicolas Martin Silva, Anis Khiat, Minh Chau Ta, Ludovic Lhermitte, Aurore Touzart, Sylvain Hanein, Cléa Rouillon, Francisca Joly, Adrienne Elmorjani, Julie Steffann, Nadine Cerf-Bensussan, Marianna Parlato, Fabienne Charbit-Henrion
Subcutaneous Immunoglobulin 16.5% (Cutaquig®) in Primary Immunodeficiency Disease: Safety, Tolerability, Efficacy, and Patient Experience with Enhanced Infusion Regimens
Sudhir Gupta, James DeAngelo, Isaac Melamed, Jolan E. Walter, Ai-Lan Kobayashi, Tracy Bridges, J. Wesley Sublett, Jonathan A. Bernstein, Alan Koterba, Michael Manning, Joanna Maltese, Sonja Hoeller, Eva Turpel-Kantor, Huub Kreuwel, Roger H. Kobayashi
Predominant Antibody Deficiency and Risk of Microscopic Colitis: a Nationwide Case–Control Study in Sweden
Daniel V. DiGiacomo, Bjorn Roelstraete, Lennart Hammarström, Jocelyn R. Farmer, Hamed Khalili, Jonas F. Ludvigsson
JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study
Marie-Louise Frémond, Marie Hully, Benjamin Fournier, Rémi Barrois, Romain Lévy, Mélodie Aubart, Martin Castelle, Delphine Chabalier, Clarisse Gins, Eugénie Sarda, Buthaina Al Adba, Sophie Couderc, Céline D’ Almeida, Claire-Marine Berat, Chloé Durrleman, Caroline Espil, Laetitia Lambert, Cécile Méni, Maximilien Périvier, Pascal Pillet, Laura Polivka, Manuel Schiff, Calina Todosi, Florence Uettwiller, Alice Lepelley, Gillian I. Rice, Luis Seabra, Sylvia Sanquer, Anne Hulin, Claire Pressiat, Lauriane Goldwirt, Vincent Bondet, Darragh Duffy, Despina Moshous, Brigitte Bader-Meunier, Christine Bodemer, Florence Robin-Renaldo, Nathalie Boddaert, Stéphane Blanche, Isabelle Desguerre, Yanick J. Crow, Bénédicte Neven
Impaired Response to Polysaccharide Vaccine in Selective IgE Deficiency
Emily Noonan, Matthew D. Straesser, Thomas Makin, Abigail Williams, Amani Al-Hazaymeh, John M. Routes, James Verbsky, Larry Borish, Monica G. Lawrence
Clinical Features and Genetic Analysis of Taiwanese Primary Immunodeficiency Patients with Prolonged Diarrhea and Monogenetic Inflammatory Bowel Disease
Wen-I. Lee, Chien-Chang Chen, Shih-Hsiang Chen, Wan-Tz Lai, Tang-Her Jaing, Liang-Shiou Ou, Chi-Jou Liang, Chen-Chen Kang, Jing-Long Huang
A Registry Study of 240 Patients with X-Linked Agammaglobulinemia Living in the USA
Vivian Hernandez-Trujillo, Chuan Zhou, Christopher Scalchunes, Hans D. Ochs, Kathleen E. Sullivan, Charlotte Cunningham-Rundles, Ramsay L. Fuleihan, Francisco A. Bonilla, Aleksandra Petrovic, David J. Rawlings, M. Teresa de la Morena