Mendelian susceptibility to mycobacterial disease: 2014–2018 update

作者：Jérémie Rosain, Xiao‐Fei Kong, Rubén Martínez‐Barricarte, Carmen Oleaga‐Quintas, Noé Ramirez‐Alejo, Janet Markle, Satoshi Okada, Stéphanie Boisson‐Dupuis, Jean‐Laurent Casanova, Jacinta C. Bustamante · 发表于：Immunology and Cell Biology · 年份：2018 · DOI：10.1111/imcb.12210 · 被引用次数：213 · 研究领域：Immunodeficiency and Autoimmune Disorders、Mycobacterium research and diagnosis、Immune Cell Function and Interaction

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.