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

Hematopoietic Stem Cell Transplantation Humans Lymphohistiocytosis, Hemophagocytic Mycobacterium Infections Mycobacterium bovis STAT1 Transcription Factor / genetics

Journal

Journal of immunology (Baltimore, Md. : 1950)
ISSN: 1550-6606
Titre abrégé: J Immunol
Pays: United States
ID NLM: 2985117R

Informations de publication

Date de publication:
01 07 2021
Historique:
received: 30 12 2020
accepted: 28 04 2021
pubmed: 30 6 2021
medline: 31 12 2021
entrez: 29 6 2021
Statut: ppublish

Résumé

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

Identifiants

DOI: 10.4049/jimmunol.2001451 PMID: 34183371 PMC: PMC8702442
pubmed: 34183371
pii: jimmunol.2001451
doi: 10.4049/jimmunol.2001451
pmc: PMC8702442
mid: NIHMS1701824
doi:

Substances chimiques

STAT1 Transcription Factor 0
STAT1 protein, human 0

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Comment

Langues

eng

Sous-ensembles de citation

IM

Pagination

133-152

Subventions

Organisme : NCATS NIH HHS
ID : UL1 TR000043
Pays : United States
Organisme : NIAID NIH HHS
ID : R01 AI095983
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR001866
Pays : United States
Organisme : NIAID NIH HHS
ID : R37 AI095983
Pays : United States
Organisme : Howard Hughes Medical Institute
Pays : United States

Commentaires et corrections

Type : CommentOn

Informations de copyright

Copyright © 2021 by The American Association of Immunologists, Inc.

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Auteurs

Tom 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.

Sonoko Sakata (S)

Department of Pediatrics, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan.

Miyuki Tsumura (M)

Department of Pediatrics, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan.

Taushif Khan (T)

Division of Translational Medicine, Sidra Medicine, Doha, Qatar.
ORCID: 0000-0002-7917-8965

Ana 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.
ORCID: 0000-0002-0542-0587

Bandar K Al-Saud (BK)

Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

Hatice Eke Gungor (HE)

Department of Pediatrics, Pediatric Allergy and Immunology Unit, Kayseri Education and Research Hospital, Erkilet, Kayseri, Turkey.
ORCID: 0000-0002-0102-8123

Prasad Taur (P)

Department of Pediatric Immunology, Bai Jerbai Wadia Hospital for Children, Mumbai, India.

Valentine Jeanne-Julien (V)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.
University of Paris, Imagine Institute, Paris, France.

Mette Christiansen (M)

Department of Clinical Immunology, Aarhus University Hospital, Aarhus N, Denmark.
ORCID: 0000-0001-5158-3670

Lisa-Maria Köhler (LM)

Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.

Gehad Eltayeb 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.

Jérémie Rosain (J)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.
University of Paris, Imagine Institute, Paris, France.
ORCID: 0000-0002-2822-161X

Shiho Nishimura (S)

Department of Pediatrics, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan.

Fumiaki Sakura (F)

Department of Pediatrics, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan.

Matthieu Bouaziz (M)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.
University of Paris, Imagine Institute, Paris, France.

Carmen Oleaga-Quintas (C)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.
University of Paris, Imagine Institute, Paris, France.
ORCID: 0000-0002-6057-0959

Alejandro 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.
ORCID: 0000-0002-8668-6853

Àngela 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.

Yasemin Altuner Torun (Y)

Pediatric Hematology and Oncology Unit, Istinye University, School of Medicine, İstanbul, Turkey.

Anna-Lena Neehus (AL)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.
University of Paris, Imagine Institute, Paris, France.
ORCID: 0000-0002-8573-6820

Manon Roynard (M)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.
University of Paris, Imagine Institute, Paris, France.
ORCID: 0000-0003-0668-002X

Sefika Elmas Bozdemir (SE)

Pediatric İnfectious Disease Unit, Department of Pediatrics, Kayseri Education and Research Hospital, Erkilet, Kayseri, Turkey.

Nawal 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.
ORCID: 0000-0003-2180-4158

Moza 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.

Irina Mersiyanova (I)

Molecular Biology Laboratory, Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia.
ORCID: 0000-0003-0471-2956

Flore Rozenberg (F)

Department of Virology, Cochin Hospital, University of Paris, Assistance Publique Hôpitaux de Paris, Paris, France.

Carsten 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.

Ina Hainmann (I)

Department of Pediatric Hematology and Oncology, University Hospital Bonn, Bonn, Germany.

Fabian Hauck (F)

Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.
ORCID: 0000-0001-9644-2003

Mohammed Hamdan Alzahrani (MH)

Pediatric Department, Security Forces Hospital, Riyadh, Saudi Arabia.

Sami Hussain Alhajjar (SH)

Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
ORCID: 0000-0003-4664-9748

Saleh 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.

Theresa Cole (T)

Department of Immunology, The Royal Children's Hospital, Melbourne, Australia.
ORCID: 0000-0002-8272-4074

Ramsay Fuleihan (R)

Division of Allergy & Immunology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL.

Peter D 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.
ORCID: 0000-0002-7411-5375

Raffaele Badolato (R)

Institute of Molecular Medicine Angelo Nocivelli, University of Brescia, Civil Hospital of Brescia, Brescia, Italy.

Laia 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.
ORCID: 0000-0002-3559-0018

Laurent 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.

Mukesh Desai (M)

Department of Pediatric Immunology, Bai Jerbai Wadia Hospital for Children, Mumbai, India.

Hamoud Al-Mousa (H)

Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

Anna Shcherbina (A)

Department of Clinical Immunology and Allergy, Center for Pediatric Hematology, Oncology and Immunology, Moscow, Russia.
ORCID: 0000-0002-3113-4939

Nico Marr (N)

Division of Translational Medicine, Sidra Medicine, Doha, Qatar.

Stéphanie 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.

Jean-Laurent 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.

Satoshi Okada (S)

Department of Pediatrics, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan.

Jacinta 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.

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Classifications MeSH

questionsmedicales.fr › Procédures de chirurgie opératoire › Transplantation › Transplantation cellulaire › Transplantation de cellules souches › Transplantation de cellules souches hématopoïétiques › Genetic, Immunological, and Clinical Features...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Genetic, Immunological, and Clinical Features...
questionsmedicales.fr › Hémopathies et maladies lymphatiques › Maladies lymphatiques › Histiocytose › Histiocytose non langerhansienne › Lymphohistiocytose hémophagocytaire › Genetic, Immunological, and Clinical Features...
questionsmedicales.fr › Infection › Infections bactériennes et mycoses › Infections bactériennes › Infections bactériennes à Gram positif › Infections à Actinomycetales › Infections à Mycobacterium › Genetic, Immunological, and Clinical Features...
questionsmedicales.fr › Bactéries › Bactéries à Gram positif › Bâtonnets à Gram positif › Bâtonnets asporogènes à Gram positif › Bâtonnets asporogènes réguliers à Gram positif › Mycobacteriaceae › Mycobacterium › Mycobacterium bovis › Genetic, Immunological, and Clinical Features...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Facteurs de transcription › Facteurs de transcription STAT › Facteur de transcription STAT-1 › Genetic, Immunological, and Clinical Features...