期刊
IMMUNOLOGY AND CELL BIOLOGY
卷 97, 期 4, 页码 360-367出版社
WILEY
DOI: 10.1111/imcb.12210
关键词
IFN-gamma; mycobacterium; next-generation sequencing; primary immunodeficiency
资金
- National Institute of Allergy and Infectious Diseases [5R37AI095983]
- Rockefeller University
- St. Giles Foundation
- National Institute of Health and Medical Research (INSERM)
- Paris Descartes University
- Integrative Biology of Emerging Infectious Diseases Laboratory of Excellence [ANR-10-LABX-62-IBEID]
- French National Research Agency under the Investments for the future program [ANR-10-IAHU-01]
- ANR-GENMSMD [ANR-16-CE17-0005-01]
- Jerome Lejeune Foundation
- Stony Wold-Herbert Fund
- Choh-Hao Li Memorial Fund Scholar Award
- Shanghai Educational Development Foundation
- European Molecular Biology Organization (EMBO) Long-Term fellowship
- Conacyt [277639]
- Stony Wold Herbert Fund
- ANR-HGDIFD [ANR-14-CE15-006-01]
- [SRC2017]
Mendelian susceptibility to mycobacterial disease (MSMD) is caused by inborn errors of IFN-gamma 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-gamma R2 deficiency, and (4) two forms of syndromic MSMD: ROR gamma/ROR gamma T 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.
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