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

Masato Ogishi; Rui Yang; Jérémie Rosain; Jacinta Bustamante; Jean-Laurent Casanova; Stéphanie Boisson-Dupuis

doi:10.1016/j.coi.2023.102296

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

Curr Opin Immunol. 2023 Apr:81:102296. doi: 10.1016/j.coi.2023.102296. Epub 2023 Mar 1.

Authors

Masato Ogishi¹, Rui Yang², Jérémie Rosain³, Jacinta Bustamante⁴, Jean-Laurent Casanova⁵, Stéphanie Boisson-Dupuis⁶

Affiliations

¹ 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.
² St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
³ 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.
⁴ 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.
⁵ 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.
⁶ 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.

Abstract

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.

Publication types

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

MeSH terms

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

Substances

Interferon-gamma

Abstract

Publication types

MeSH terms

Substances

Grants and funding