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Mendelian susceptibility to mycobacterial disease: 2014–2018 update
Author(s) -
Rosain Jérémie,
Kong XiaoFei,
MartinezBarricarte Ruben,
OleagaQuintas Carmen,
RamirezAlejo Noé,
Markle Janet,
Okada Satoshi,
BoissonDupuis Stéphanie,
Casanova JeanLaurent,
Bustamante Jacinta
Publication year - 2019
Publication title -
immunology and cell biology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.999
H-Index - 104
eISSN - 1440-1711
pISSN - 0818-9641
DOI - 10.1111/imcb.12210
Subject(s) - mendelian inheritance , biology , disease , allele , genetics , phenotype , allelic heterogeneity , gene , genetic heterogeneity , medicine , pathology
Mendelian susceptibility to mycobacterial disease ( MSMD ) is caused by inborn errors of IFN ‐γ immunity. Since 1996, disease‐causing mutations have been found in 11 genes, which, through allelic heterogeneity, underlie 21 different genetic disorders. We briefly review here progress in the study of molecular, cellular and clinical aspects of MSMD since the last comprehensive review published in 2014. Highlights include the discoveries of (1) a new genetic etiology, autosomal recessive signal peptide peptidase‐like 2 A deficiency, (2) TYK 2‐deficient patients with a clinical phenotype of MSMD , (3) an allelic form of partial recessive IFN ‐γR2 deficiency, and (4) two forms of syndromic MSMD : ROR γ/ ROR γT and JAK1 deficiencies. These recent findings illustrate how genetic and immunological studies of MSMD can shed a unique light onto the mechanisms of protective immunity to mycobacteria in humans.