Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 Deficiency.

Autor:	Le Voyer T; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France; jacinta.bustamante@inserm.fr levoyertom@gmail.com.; University of Paris, Imagine Institute, Paris, France., Sakata S; Department of Pediatrics, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan., Tsumura M; Department of Pediatrics, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan., Khan T; Division of Translational Medicine, Sidra Medicine, Doha, Qatar., Esteve-Sole A; Clinical Immunology and Primary Immunodeficiencies Unit, Pediatric Allergy and Clinical Immunology Department, and Functional Unit of Immunology, Sant Joan de Déu Hospital, Institut de Recerca Sant Joan de Déu, University of Barcelona, Barcelona, Spain., Al-Saud BK; Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Gungor HE; Department of Pediatrics, Pediatric Allergy and Immunology Unit, Kayseri Education and Research Hospital, Erkilet, Kayseri, Turkey., Taur P; Department of Pediatric Immunology, Bai Jerbai Wadia Hospital for Children, Mumbai, India., Jeanne-Julien V; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; University of Paris, Imagine Institute, Paris, France., Christiansen M; Department of Clinical Immunology, Aarhus University Hospital, Aarhus N, Denmark., Köhler LM; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany., ElGhazali GE; Sheikh Khalifa Medical City-Union71, Abu Dhabi and Department of Immunology, College of Medicine and Health Sciences, UAE University, Al Ain, United Arab Emirates., Rosain J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; University of Paris, Imagine Institute, Paris, France., Nishimura S; Department of Pediatrics, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan., Sakura F; Department of Pediatrics, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan., Bouaziz M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; University of Paris, Imagine Institute, Paris, France., Oleaga-Quintas C; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; University of Paris, Imagine Institute, Paris, France., Nieto-Patlán A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; University of Paris, Imagine Institute, Paris, France.; Research and Development in Bioprocess Unit, National School of Biological Sciences, National Polytechnic Institute, Mexico City, Mexico., Deyà-Martinez À; Clinical Immunology and Primary Immunodeficiencies Unit, Pediatric Allergy and Clinical Immunology Department, and Functional Unit of Immunology, Sant Joan de Déu Hospital, Institut de Recerca Sant Joan de Déu, University of Barcelona, Barcelona, Spain., Altuner Torun Y; Pediatric Hematology and Oncology Unit, Istinye University, School of Medicine, İstanbul, Turkey., Neehus AL; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; University of Paris, Imagine Institute, Paris, France., Roynard M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; University of Paris, Imagine Institute, Paris, France., Bozdemir SE; Pediatric İnfectious Disease Unit, Department of Pediatrics, Kayseri Education and Research Hospital, Erkilet, Kayseri, Turkey., Al Kaabi N; Sheikh Khalifa Medical City-Union71, Abu Dhabi and Department of Immunology, College of Medicine and Health Sciences, UAE University, Al Ain, United Arab Emirates., Al Hassani M; Sheikh Khalifa Medical City-Union71, Abu Dhabi and Department of Immunology, College of Medicine and Health Sciences, UAE University, Al Ain, United Arab Emirates., Mersiyanova I; Molecular Biology Laboratory, Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Rozenberg F; Department of Virology, Cochin Hospital, University of Paris, Assistance Publique Hôpitaux de Paris, Paris, France., Speckmann C; Center for Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Center for Chronic Immunodeficiency, Institute for Immunodeficiency, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Hainmann I; Department of Pediatric Hematology and Oncology, University Hospital Bonn, Bonn, Germany., Hauck F; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany., Alzahrani MH; Pediatric Department, Security Forces Hospital, Riyadh, Saudi Arabia., Alhajjar SH; Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Al-Muhsen S; Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Immunology Research Laboratory, College of Medicine, King Saud University, Riyadh, Saudi Arabia., Cole T; Department of Immunology, The Royal Children's Hospital, Melbourne, Australia., Fuleihan R; Division of Allergy & Immunology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL., Arkwright PD; Department of Paediatric Allergy and Immunology, Lydia Becker Institute of Immunology and Inflammation, Royal Manchester Children's Hospital, University of Manchester, Manchester, United Kingdom., Badolato R; Institute of Molecular Medicine Angelo Nocivelli, University of Brescia, Civil Hospital of Brescia, Brescia, Italy., Alsina L; Clinical Immunology and Primary Immunodeficiencies Unit, Pediatric Allergy and Clinical Immunology Department, and Functional Unit of Immunology, Sant Joan de Déu Hospital, Institut de Recerca Sant Joan de Déu, University of Barcelona, Barcelona, Spain., Abel L; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; University of Paris, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY., Desai M; Department of Pediatric Immunology, Bai Jerbai Wadia Hospital for Children, Mumbai, India., Al-Mousa H; Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Shcherbina A; Department of Clinical Immunology and Allergy, Center for Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Marr N; Division of Translational Medicine, Sidra Medicine, Doha, Qatar., Boisson-Dupuis S; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; University of Paris, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY., Casanova JL; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; University of Paris, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.; Howard Hughes Medical Institute, New York, NY; and., Okada S; Department of Pediatrics, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan., Bustamante J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France; jacinta.bustamante@inserm.fr levoyertom@gmail.com.; University of Paris, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.; Study Center for Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris, Paris, France.
Jazyk:	angličtina
Zdroj:	Journal of immunology (Baltimore, Md. : 1950) [J Immunol] 2021 Jul 01; Vol. 207 (1), pp. 133-152. Date of Electronic Publication: 2021 Jun 28.
DOI:	10.4049/jimmunol.2001451
Abstrakt:	Autosomal recessive (AR) STAT1 deficiency is a severe inborn error of immunity disrupting cellular responses to type I, II, and III IFNs, and IL-27, and conferring a predisposition to both viral and mycobacterial infections. We report the genetic, immunological, and clinical features of an international cohort of 32 patients from 20 kindreds: 24 patients with complete deficiency, and 8 patients with partial deficiency. Twenty-four patients suffered from mycobacterial disease (bacillus Calmette-Guérin = 13, environmental mycobacteria = 10, or both in 1 patient). Fifty-four severe viral episodes occurred in sixteen patients, mainly caused by Herpesviridae viruses. Attenuated live measles, mumps, and rubella and/or varicella zoster virus vaccines triggered severe reactions in the five patients with complete deficiency who were vaccinated. Seven patients developed features of hemophagocytic syndrome. Twenty-one patients died, and death was almost twice as likely in patients with complete STAT1 deficiency than in those with partial STAT1 deficiency. All but one of the eight survivors with AR complete deficiency underwent hematopoietic stem cell transplantation. Overall survival after hematopoietic stem cell transplantation was 64%. A diagnosis of AR STAT1 deficiency should be considered in children with mycobacterial and/or viral infectious diseases. It is important to distinguish between complete and partial forms of AR STAT1 deficiency, as their clinical outcome and management differ significantly. (Copyright © 2021 by The American Association of Immunologists, Inc.)
Databáze:	MEDLINE
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