Inborn errors of human transcription factors governing IFN-γ antimycobacterial immunity.

Humans Interferon-gamma Genetic Predisposition to Disease Mycobacterium Infections / genetics Mycobacterium Genotype

Journal

Current opinion in immunology
ISSN: 1879-0372
Titre abrégé: Curr Opin Immunol
Pays: England
ID NLM: 8900118

Informations de publication

Date de publication:
04 2023
Historique:
received: 17 12 2022
revised: 24 01 2023
accepted: 31 01 2023
pmc-release: 01 04 2024
pubmed: 4 3 2023
medline: 21 3 2023
entrez: 3 3 2023
Statut: ppublish

Résumé

Inborn errors of immunity (IEI) delineate redundant and essential defense mechanisms in humans. We review 15 autosomal-dominant (AD) or -recessive (AR) IEI involving 11 transcription factors (TFs) and impairing interferon-gamma (IFN-γ) immunity, conferring a predisposition to mycobacterial diseases. We consider three mechanism-based categories: 1) IEI mainly affecting myeloid compartment development (AD GATA2 and AR and AD IRF8 deficiencies), 2) IEI mainly affecting lymphoid compartment development (AR FOXN1, AR PAX1, AR RORγ/RORγT, AR T-bet, AR c-Rel, AD STAT3 gain-of-function (GOF), and loss-of-function (LOF) deficiencies), and 3) IEI mainly affecting myeloid and/or lymphoid function (AR and AD STAT1 LOF, AD STAT1 GOF, AR IRF1, and AD NFKB1 deficiencies). We discuss the contribution of the discovery and study of inborn errors of TFs essential for host defense against mycobacteria to molecular and cellular analyses of human IFN-γ immunity.

Identifiants

DOI: 10.1016/j.coi.2023.102296 PMID: 36867972 PMC: PMC10023504
pubmed: 36867972
pii: S0952-7915(23)00015-8
doi: 10.1016/j.coi.2023.102296
pmc: PMC10023504
mid: NIHMS1879297
pii:
doi:

Substances chimiques

Interferon-gamma 82115-62-6

Types de publication

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

Langues

eng

Sous-ensembles de citation

IM

Pagination

102296

Subventions

Organisme : NIAID NIH HHS
ID : R01 AI095983
Pays : United States
Organisme : NIAID NIH HHS
ID : U19 AI142737
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR001866
Pays : United States
Organisme : NCI NIH HHS
ID : F99 CA274708
Pays : United States

Informations de copyright

Copyright © 2023 The Authors. Published by Elsevier Ltd.. All rights reserved.

Références

Proc Natl Acad Sci U S A. 2019 May 21;116(21):10430-10434
pubmed: 31068474
J Exp Med. 2023 Jan 2;220(1):
pubmed: 36326697
J Clin Immunol. 2021 Apr;41(3):639-657
pubmed: 33417088
J Exp Med. 2021 Dec 6;218(12):
pubmed: 34694366
Science. 1994 Mar 18;263(5153):1612-5
pubmed: 7510419
Cell. 2000 Mar 17;100(6):655-69
pubmed: 10761931
J Immunol. 2005 Oct 1;175(7):4593-602
pubmed: 16177104
iScience. 2021 Jul 29;24(8):102836
pubmed: 34471858
J Allergy Clin Immunol. 2018 Jun;141(6):2234-2248
pubmed: 29128673
J Clin Immunol. 2021 Jul;41(5):864-880
pubmed: 33932191
Front Immunol. 2019 Jan 29;9:3148
pubmed: 30761159
Am J Respir Crit Care Med. 2003 Mar 15;167(6):828-34
pubmed: 12433668
Nat Med. 2021 Sep;27(9):1646-1654
pubmed: 34183838
J Clin Immunol. 2021 May;41(4):756-768
pubmed: 33464451
Curr Opin Immunol. 2021 Oct;72:59-64
pubmed: 33839590
Science. 2021 Jul 16;373(6552):
pubmed: 34437126
J Immunol. 2007 Aug 15;179(4):2467-76
pubmed: 17675508
J Immunol. 2021 Jul 1;207(1):133-152
pubmed: 34183371
N Engl J Med. 2011 Jul 14;365(2):127-38
pubmed: 21524210
Cell. 2017 Jan 12;168(1-2):37-57
pubmed: 28086098
Infect Genet Evol. 2021 Dec;96:105121
pubmed: 34666172
Sci Immunol. 2018 Dec 21;3(30):
pubmed: 30578352
J Clin Immunol. 2021 Jul;41(5):881-895
pubmed: 33987750
J Clin Immunol. 2020 Nov;40(8):1065-1081
pubmed: 32852681
Blood. 2016 Jun 23;127(25):3154-64
pubmed: 27114460
Sci Immunol. 2023 Feb 17;8(80):eabq5204
pubmed: 36763636
J Exp Med. 2015 Jun 1;212(6):855-64
pubmed: 25941256
Blood. 2015 Jan 22;125(4):639-48
pubmed: 25349174
J Exp Med. 2022 Oct 3;219(10):
pubmed: 36094518
Nat Genet. 2014 Aug;46(8):812-814
pubmed: 25038750
Nat Immunol. 2018 Sep;19(9):973-985
pubmed: 30127434
Cell. 2023 Feb 2;186(3):621-645.e33
pubmed: 36736301
Hum Genet. 2020 Jun;139(6-7):1001-1009
pubmed: 32055999
J Exp Med. 2018 Jul 2;215(7):1823-1838
pubmed: 29773644
Sci Immunol. 2022 Jul 22;7(73):eabq3277
pubmed: 35867801
Science. 2001 Jul 13;293(5528):300-3
pubmed: 11452125
J Infect Dis. 2014 Aug 15;210(4):611-8
pubmed: 24610875
Science. 2015 Aug 7;349(6248):606-613
pubmed: 26160376
Cell. 2020 Dec 23;183(7):1826-1847.e31
pubmed: 33296702
J Allergy Clin Immunol. 2019 Aug;144(2):606-608.e4
pubmed: 31103457
J Exp Med. 2021 Nov 1;218(11):
pubmed: 34473196
J Exp Med. 2021 Aug 2;218(8):
pubmed: 34137790
Sci Immunol. 2020 Feb 28;5(44):
pubmed: 32111619
Front Immunol. 2019 Mar 19;10:297
pubmed: 30941118
J Clin Immunol. 2022 Oct;42(7):1508-1520
pubmed: 36198931
Am J Respir Crit Care Med. 2004 Feb 15;169(4):459-67
pubmed: 14656747
J Allergy Clin Immunol. 2022 Oct 11;:
pubmed: 36228738
Cell. 2022 Aug 18;185(17):3086-3103
pubmed: 35985287
Blood. 2015 Jan 22;125(4):591-9
pubmed: 25359994
J Clin Invest. 2021 Sep 1;131(17):
pubmed: 34623332
J Clin Immunol. 2022 Oct;42(7):1473-1507
pubmed: 35748970
Nat Immunol. 2007 Jun;8(6):639-46
pubmed: 17486092
J Exp Med. 2021 Aug 2;218(8):
pubmed: 34160550
J Allergy Clin Immunol. 2020 Oct;146(4):901-911
pubmed: 32278790
J Clin Immunol. 2022 Jul;42(5):975-985
pubmed: 35338423
Allergy Asthma Clin Immunol. 2020 Jul 22;16:65
pubmed: 32944025
Cell. 2006 Sep 22;126(6):1121-33
pubmed: 16990136

Auteurs

Masato Ogishi (M)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA; The David Rockefeller Graduate Program, Rockefeller University, New York, NY, USA.

Rui Yang (R)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.

Jérémie Rosain (J)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France; Paris Cité University, Imagine Institute, Paris, France; Center for the Study of Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.

Jacinta Bustamante (J)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France; Paris Cité University, Imagine Institute, Paris, France; Center for the Study of Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.

Jean-Laurent Casanova (JL)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France; Paris Cité University, Imagine Institute, Paris, France; Department of Pediatrics, Necker Hospital for Sick Children, AP-HP, Paris, France; Howard Hughes Medical Institute, New York, NY, USA.

Stéphanie Boisson-Dupuis (S)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France; Paris Cité University, Imagine Institute, Paris, France. Electronic address: stbo603@rockefeller.edu.

Articles similaires

[Redispensing of expensive oral anticancer medicines: a practical application].

Lisanne N van Merendonk, Kübra Akgöl, Bastiaan Nuijen
1.00
Humans Antineoplastic Agents Administration, Oral Drug Costs Counterfeit Drugs

Smoking Cessation and Incident Cardiovascular Disease.

Jun Hwan Cho, Seung Yong Shin, Hoseob Kim et al.
1.00
Humans Male Smoking Cessation Cardiovascular Diseases Female

Evaluation of Low-Value Services Across Major Medicare Advantage Insurers and Traditional Medicare.

Ciara Duggan, Adam L Beckman, Ishani Ganguli et al.
1.00
Humans United States Aged Cross-Sectional Studies Medicare Part C

Effectiveness of Virtual Yoga for Chronic Low Back Pain: A Randomized Clinical Trial.

Hallie Tankha, Devyn Gaskins, Amanda Shallcross et al.
1.00
Humans Yoga Low Back Pain Female Male

Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Inborn errors of human transcription factors...
questionsmedicales.fr › Facteurs biologiques › Protéines et peptides de signalisation intercellulaire › Cytokines › Lymphokines › Facteurs d'activation des macrophages › Interféron gamma › Inborn errors of human transcription factors...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Prédisposition génétique à une maladie › Inborn errors of human transcription factors...
questionsmedicales.fr › Infection › Infections bactériennes et mycoses › Infections bactériennes › Infections bactériennes à Gram positif › Infections à Actinomycetales › Infections à Mycobacterium › Inborn errors of human transcription factors...
questionsmedicales.fr › Bactéries › Bactéries à Gram positif › Bâtonnets à Gram positif › Bâtonnets asporogènes à Gram positif › Bâtonnets asporogènes réguliers à Gram positif › Mycobacteriaceae › Mycobacterium › Inborn errors of human transcription factors...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Inborn errors of human transcription factors...