TY - JOUR
T1 - Mendelian susceptibility to mycobacterial disease
T2 - 2014–2018 update
AU - Rosain, Jérémie
AU - Kong, Xiao Fei
AU - Martinez-Barricarte, Ruben
AU - Oleaga-Quintas, Carmen
AU - Ramirez-Alejo, Noé
AU - Markle, Janet
AU - Okada, Satoshi
AU - Boisson-Dupuis, Stéphanie
AU - Casanova, Jean Laurent
AU - Bustamante, Jacinta
N1 - Publisher Copyright:
© 2018 Australasian Society for Immunology Inc.
PY - 2019/4
Y1 - 2019/4
N2 - 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) TYK2-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: RORγ/RORγT 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.
AB - 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) TYK2-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: RORγ/RORγT 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.
KW - IFN-γ
KW - mycobacterium
KW - next-generation sequencing
KW - primary immunodeficiency
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U2 - 10.1111/imcb.12210
DO - 10.1111/imcb.12210
M3 - Review article
C2 - 30264912
AN - SCOPUS:85055711153
SN - 0818-9641
VL - 97
SP - 360
EP - 367
JO - Immunology and Cell Biology
JF - Immunology and Cell Biology
IS - 4
ER -