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Three novel compound heterozygous IL12RB1 mutations in Chinese patients with Mendelian susceptibility to mycobacterial disease

Authors :
Xianqin Zhang
Tiantian Han
Jiarui Wang
Meiqi Hou
Zhengyi Ni
Zhongwen Tang
Yang Tan
Mi Zhou
Geng Luo
Xiaopei Zhou
Ali Wang
Lei Li
Weimin Jia
Yanling Wu
Dazhi Zhang
Zhenxing Liu
Source :
PLoS ONE, Vol 14, Iss 4, p e0215648 (2019)
Publication Year :
2019
Publisher :
Public Library of Science (PLoS), 2019.

Abstract

Mendelian Susceptibility to Mycobacterial Diseases (MSMD) is a primary immunodeficiency disease (PID) characterized by variable susceptibility to weakly virulent mycobacteria (Bacille Calmette-Guerin, BCG) and various intramacrophagic bacteria, fungi, parasites. Mycobacterial disease generally begins in childhood, more rarely during adolescence and adulthood. The pathogenesis of MSMD is the inherited impaired production of interferon gamma (IFN-γ) or inadequate response to it. Autosomal recessive IL12RB1 deficiency is the most common genetic etiology of MSMD. Here we identified three novel compound heterozygous mutations in IL12RB1 gene (c.635G>A, c.765delG; c.632G>C, c.847C>T; c.64G>A, c.1673insGAGCTTCCTGAG) in three Chinese families with MSMD.

Details

Language :
English
ISSN :
19326203
Volume :
14
Issue :
4
Database :
OpenAIRE
Journal :
PLoS ONE
Accession number :
edsair.doi.dedup.....5742bc83c46ef12ca09966f7fffd4e3b