PLoS ONE (Jan 2019)

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
https://doi.org/10.1371/journal.pone.0215648
Journal volume & issue
Vol. 14, no. 4
p. e0215648

Abstract

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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.