Ausgabe 5/2021
Inhalt (36 Artikel)
The “Editors” Take to RAG: Promise of CRISPR/Cas9/rAAV6-Based Gene Therapy for RAG2 Deficiency
Vivien Béziat, Isabelle Meyts
Gene Editing Rescues In vitro T Cell Development of RAG2-Deficient Induced Pluripotent Stem Cells in an Artificial Thymic Organoid System
Cameron L. Gardner, Mara Pavel-Dinu, Kerry Dobbs, Marita Bosticardo, Paul K. Reardon, Justin Lack, Suk See DeRavin, Kent Le, Ezekiel Bello, Francesca Pala, Ottavia M. Delmonte, Harry Malech, Amelie Montel-Hagan, Gay Crooks, Oreste Acuto, Matthew H. Porteus, Luigi D. Notarangelo
Correction to: Gene Editing Rescues in Vitro T Cell Development of RAG2-Deficient Induced Pluripotent Stem Cells in an Artificial Thymic Organoid System
Cameron L. Gardner, Mara Pavel-Dinu, Kerry Dobbs, Marita Bosticardo, Paul K. Reardon, Justin Lack, Suk See DeRavin, Kent Le, Ezekiel Bello, Francesca Pala, Ottavia M. Delmonte, Harry Malech, Amelie Montel-Hagen, Gay Crooks, Oreste Acuto, Matthew H. Porteus, Luigi D. Notarangelo
STAT3 Hyper-IgE Syndrome—an Update and Unanswered Questions
Christo Tsilifis, Alexandra F. Freeman, Andrew R. Gennery
Congenital Athymia: Genetic Etiologies, Clinical Manifestations, Diagnosis, and Treatment
Cathleen Collins, Emily Sharpe, Abigail Silber, Sarah Kulke, Elena W. Y. Hsieh
Care of Children with DiGeorge Before and After Cultured Thymus Tissue Implantation
Stephanie E. Gupton, Elizabeth A. McCarthy, M. Louise Markert
Serologic Cross-Reactivity of SARS-CoV-2 with Endemic and Seasonal Betacoronaviruses
Jennifer Hicks, Carleen Klumpp-Thomas, Heather Kalish, Anandakumar Shunmugavel, Jennifer Mehalko, John-Paul Denson, Kelly R. Snead, Matthew Drew, Kizzmekia S. Corbett, Barney S. Graham, Matthew D. Hall, Matthew J. Memoli, Dominic Esposito, Kaitlyn Sadtler
Neutralizing Autoantibodies to Type I IFNs in >10% of Patients with Severe COVID-19 Pneumonia Hospitalized in Madrid, Spain
Jesús Troya, Paul Bastard, Laura Planas-Serra, Pablo Ryan, Montse Ruiz, María de Carranza, Juan Torres, Amalia Martínez, Laurent Abel, Jean-Laurent Casanova, Aurora Pujol
A Patient with X-Linked Agammaglobulinemia and COVID-19 Infection Treated with Remdesivir and Convalescent Plasma
Aled Iaboni, Natalie Wong, Stephen D. Betschel
Resolution of Persistent COVID-19 After Convalescent Plasma in a Patient with B Cell Aplasia
Emily McKemey, Adrian M. Shields, Sian E. Faustini, Harriet J. Hill, Aliaksandra Barnskaya, Zania Stamataki, Simon Gompertz, Alex G. Richter, Davinder Dosanjh, Shyam Madathil
Correction to: Resolution of Persistent COVID-19 After Convalescent Plasma in a Patient with B Cell Aplasia
Emily McKemey, Adrian M. Shields, Sian E. Faustini, Harriet J. Hill, Aliaksandra Baranskaya, Zania Stamataki, Simon Gompertz, Alex G. Richter, Davinder Dosanjh, Shyam Madathil
Interferon-β Therapy in a Patient with Incontinentia Pigmenti and Autoantibodies against Type I IFNs Infected with SARS-CoV-2
Paul Bastard, Romain Lévy, Soledad Henriquez, Christine Bodemer, Tali-Anne Szwebel, Jean-Laurent Casanova
Hematopoietic Stem Cell Transplantation Resolves the Immune Deficit Associated with STAT3-Dominant-Negative Hyper-IgE Syndrome
Stephanie C. Harrison, Christo Tsilifis, Mary A. Slatter, Zohreh Nademi, Austen Worth, Paul Veys, Mark J. Ponsford, Stephen Jolles, Waleed Al-Herz, Terence Flood, Andrew J. Cant, Rainer Doffinger, Gabriela Barcenas-Morales, Ben Carpenter, Rachael Hough, Ásgeir Haraldsson, Jennifer Heimall, Bodo Grimbacher, Mario Abinun, Andrew R. Gennery
Hematopoietic Cell Transplantation with Reduced Intensity Conditioning Using Fludarabine/Busulfan or Fludarabine/Melphalan for Primary Immunodeficiency Diseases
Akira Nishimura, Yuki Aoki, Yasuyoshi Ishiwata, Takuya Ichimura, Junichi Ueyama, Yuta Kawahara, Takahiro Tomoda, Maiko Inoue, Kazuaki Matsumoto, Kento Inoue, Haruka Hiroki, Shintaro Ono, Motoi Yamashita, Tsubasa Okano, Mari Tanaka-Kubota, Miho Ashiarai, Satoshi Miyamoto, Reiji Miyawaki, Chika Yamagishi, Mari Tezuka, Teppei Okawa, Akihiro Hoshino, Akifumi Endo, Masato Yasuhara, Takahiro Kamiya, Noriko Mitsuiki, Toshiaki Ono, Takeshi Isoda, Masakatsu Yanagimachi, Daisuke Tomizawa, Masayuki Nagasawa, Shuki Mizutani, Michiko Kajiwara, Masatoshi Takagi, Hirokazu Kanegane, Kohsuke Imai, Tomohiro Morio
Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations
Mathieu Fusaro, Aline Vincent, Martin Castelle, Jérémie Rosain, Benjamin Fournier, Maria Veiga-da-Cunha, Takfarinas Kentache, Jill Serre, Catherine Fallet-Bianco, Anne-Lise Delezoide, Laurent Renesme, Fanny Morice Picard, Eulalie Lasseaux, Nathalie Aladjidi, Nathalie Seta, Valérie Cormier-Daire, Emile van Schaftingen, Bénédicte Neven, Despina Moshous, Sophie Blesson, Capucine Picard
Severe Liver Disorder Following Liver Transplantation in STING-Associated Vasculopathy with Onset in Infancy
Takashi Ishikawa, Eiichiro Tamura, Mureo Kasahara, Hajime Uchida, Masataka Higuchi, Hisato Kobayashi, Hirotaka Shimizu, Eiki Ogawa, Nobuyuki Yotani, Rie Irie, Rika Kosaki, Kenjiro Kosaki, Toru Uchiyama, Masafumi Onodera, Toshinao Kawai
Inherited CARD9 Deficiency in a Child with Invasive Disease Due to Exophiala dermatitidis and Two Older but Asymptomatic Siblings
Yusuke Imanaka, Maki Taniguchi, Takehiko Doi, Miyuki Tsumura, Rie Nagaoka, Maiko Shimomura, Takaki Asano, Reiko Kagawa, Yoko Mizoguchi, Shuhei Karakawa, Koji Arihiro, Kohsuke Imai, Tomohiro Morio, Jean-Laurent Casanova, Anne Puel, Osamu Ohara, Katsuhiko Kamei, Masao Kobayashi, Satoshi Okada
Systemic and Nodular Hyperinflammation in a Patient with Refractory Familial Hemophagocytic Lymphohistiocytosis 2
Julia E. Segal, Jessica D. Daley, Jessie L. Barnum, Claudia M. Salgado, Miguel Reyes-Mugica, Corinne Schneider, Serter Gumus, Darshit Thakrar, Steven W. Allen, Scott W. Canna
Clinical and Immunological Characteristics of 63 Patients with Chronic Granulomatous Disease: Hacettepe Experience
Halil Tuna Akar, Saliha Esenboga, Deniz Cagdas, Sevil Oskay Halacli, Begum Ozbek, Karin van Leeuwen, Martin de Boer, Cagman Sun Tan, Yavuz Köker, Dirk Roos, Ilhan Tezcan
Novel ORAI1 Mutation Disrupts Channel Trafficking Resulting in Combined Immunodeficiency
Fang Yu, Nourhen Agrebi, Rafah Mackeh, Khaled Abouhazima, Khadija KhudaBakhsh, Mehdi Adeli, Bernice Lo, Amel Hassan, Khaled Machaca
Thymopoiesis, Alterations in Dendritic Cells and Tregs, and Reduced T Cell Activation in Successful Extracorporeal Photopheresis Treatment of GVHD
Aisling M. Flinn, Anna Ehrlich, Catherine Roberts, Xiao Nong Wang, Janet Chou, Andrew R. Gennery
Serum IgG Profiling of Toddlers Reveals a Subgroup with Elevated Seropositive Antibodies to Viruses Correlating with Increased Vaccine and Autoantigen Responses
Patricia Pichilingue-Reto, Prithvi Raj, Quan-Zhen Li, Igor Dozmorov, David R. Karp, Edward K. Wakeland, Morgan Nelson, Rebecca S. Gruchalla, M. Teresa de la Morena, Nicolai S. C. van Oers
Rare Pathogenic Variants in Mitochondrial and Inflammation-Associated Genes May Lead to Inflammatory Cardiomyopathy in Chagas Disease
Maryem Ouarhache, Sandrine Marquet, Amanda Farage Frade, Ariela Mota Ferreira, Barbara Ianni, Rafael Ribeiro Almeida, Joao Paulo Silva Nunes, Ludmila Rodrigues Pinto Ferreira, Vagner Oliveira-Carvalho Rigaud, Darlan Cândido, Charles Mady, Ricardo Costa Fernandes Zaniratto, Paula Buck, Magali Torres, Frederic Gallardo, Pauline Andrieux, Sergio Bydlowsky, Debora Levy, Laurent Abel, Clareci Silva Cardoso, Omar Ribeiro Santos-Junior, Lea Campos Oliveira, Claudia Di Lorenzo Oliveira, Maria Do Carmo Nunes, Aurelie Cobat, Jorge Kalil, Antonio Luiz Ribeiro, Ester Cerdeira Sabino, Edecio Cunha-Neto, Christophe Chevillard
Pulmonary Follow-Up Imaging in Cartilage-Hair Hypoplasia: a Prospective Cohort Study
Svetlana Vakkilainen, Paula Klemetti, Timi Martelius, Mikko JR Seppänen, Outi Mäkitie, Sanna Toiviainen-Salo
Phenotypical and Functional Characterization of Neutrophils in Two Pyrin-Associated Auto-inflammatory Diseases
Bert Malengier-Devlies, Mieke Metzemaekers, Mieke Gouwy, Erika Van Nieuwenhove, Albrecht Betrains, Maaike Cockx, Lotte Vanbrabant, Noëmie Pörtner, Jurgen Vercauteren, Lien De Somer, Sofie Struyf, Steven Vanderschueren, Ellen De Langhe, Paul Proost, Patrick Matthys, Carine Wouters
Treatment of Immune Dysregulation Due to a PTEN Variant with Sirolimus
Jonathan S. Emerson, Eric Y. Lee, Lucinda J. Berglund
Immune Reconstitution after Hematopoietic Stem Cell Transplantation in Immunodeficiency–Centromeric Instability–Facial Anomalies Syndrome Type 1
Monica T. Kraft, Lubna S. Mehyar, Benjamin T. Prince, Shalini C. Reshmi, Roshini S. Abraham, Rolla Abu-Arja
A novel 333 bp deletion of IL10RA in Chinese patients with neonatal-onset inflammatory bowel disease
Xiaomin Peng, Yulan Lu, Bingbing Wu, Xinran Dong, Wenbin Li, Huijun Wang, Ying Huang, Wenhao Zhou
EDA-ID: a Severe Clinical Presentation Associated with a New IKBKG Mutation
Coline Bret Puvilland, Bertrand Boisson, Mathieu Fusaro, Jacinta Bustamante, Yves Bertrand, Antony Ceraulo, Marie Ouachée-Chardin
Recurrent Chronic HEV in Severe Combined Immunodeficiency
Prebashan Moodley, Andrew F. Whyte, Ashwin Dhanda
Lymphopenia with Low T and NK Cells in a Patient with USB1 Mutation, Rare Findings in Clericuzio-Type Poikiloderma with Neutropenia
Sevgi Bilgic Eltan, Asena Pınar Sefer, İbrahim Serhat Karakus, Ahmet Ozen, Elif Karakoc-Aydiner, Safa Baris
Upfront Enzyme Replacement via Erythrocyte Transfusions for PNP Deficiency
Anna Eichinger, Horst von Bernuth, Cinzia Dedieu, Sebastian A. Schroeder, Giancarlo la Marca, Michael H. Albert, Fabian Hauck
Novel CD3Z and CD3E Deficiency in Two Unrelated Females
Priyanka Setia, Umair Ahmed Bargir, Jahnavi Aluri, Abhilasha Sampagar, Anand Pandit, Vinay Kumar, Neha Jodhawat, Snehal Shabrish, Sneha Sawant, Madhura Kelkar, Priyanka Kambli, Aparna Dalvi, Manisha Madkaikar
Acquired Hemophilia A in Wiskott–Aldrich Syndrome
Tingyan He, Ke Cao, Zhongxiang Qi, Yu Xia, Jiayun Ling, Linlin Wang, Yanyan Huang, Jun Yang
Novel Case of Tripeptidyl Peptidase 2 Deficiency Associated with Mild Clinical Phenotype
Claire Stockdale, Laura Rice, Clive Carter, Ian Berry, James Poulter, Sean O’Riordan, Sally Pollard, Rashida Anwar, Reuben Tooze, Sinisa Savic
Adenosine Deaminase Deficient SCID with Myocardial Hypertrophy
Aisling M. Flinn, Terence Flood, Terence Prendiville, Andrew R. Gennery, Timothy R. Leahy