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

Xiaopei Zhou; Weimin Jia; Zhengyi Ni; Ali Wang; Zhenxing Liu; Meiqi Hou; Mi Zhou; Zhongwen Tang; Dazhi Zhang; Lei Li; Tiantian Han; Yang Tan; Geng Luo; Jiarui Wang; Yanling Wu; Xianqin Zhang

doi:10.1371/journal.pone.0215648

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

PLoS One. 2019 Apr 18;14(4):e0215648. doi: 10.1371/journal.pone.0215648. eCollection 2019.

Authors

Xiaopei Zhou¹, Weimin Jia¹, Zhengyi Ni², Ali Wang¹, Zhenxing Liu¹, Meiqi Hou¹, Mi Zhou², Zhongwen Tang², Dazhi Zhang¹, Lei Li², Tiantian Han¹, Yang Tan¹, Geng Luo¹, Jiarui Wang¹, Yanling Wu¹, Xianqin Zhang¹

Affiliations

¹ Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology and Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan, Hubei, China.
² Wuhan Jinyintan Hospital, Wuhan, Hubei, China.

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Asian People
China
Female
Genetic Predisposition to Disease*
Heterozygote*
Humans
Infant
Interferon-gamma / genetics
Interferon-gamma / immunology
Male
Mycobacterium Infections / genetics*
Mycobacterium Infections / immunology
Point Mutation*
Receptors, Interleukin-12 / genetics*
Receptors, Interleukin-12 / immunology

Substances

IFNG protein, human
IL12RB1 protein, human
Receptors, Interleukin-12
Interferon-gamma

Grants and funding

This work was supported by The National Natural Science Foundation of China (81000079, 81170165 and 81870959 to X.Z.) and supported by Program for HUST Academic Frontier Youth Team. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.