Open Access<p>Mycobacterium Intracellulare Infection Associated with TYK2 Deficiency: A Case Report and Review of the Literature</p>
Author(s) -
Wenjie Guo,
Xuewen Feng,
Meifang Yang,
Yanwan Shangguan,
Pei Hua Shi,
Zhen Wang,
Ming Hu,
Mohamed Shehata Draz,
Kaijin Xu
Publication year - 2020
Publication title -
infection and drug resistance
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.033
H-Index - 39
ISSN - 1178-6973
DOI - 10.2147/idr.s279438
Subject(s) - mycobacterium , nontuberculous mycobacteria , biology , tyrosine kinase 2 , mycobacterium chelonae , microbiology and biotechnology , medicine , immunology , virology , genetics , bacteria , receptor , platelet derived growth factor receptor , growth factor
Individuals with genetic defects show an increased susceptibility to poorly pathogenic mycobacteria including nontuberculous mycobacteria and Bacillus Calmette-Guerin (BCG). In previous studies, defects in multiple genes were identified to be associated with mycobacterium infection including tyrosine kinase 2 (TYK2). The mutations lead to insufficient production of interferon (IFN)-γ or an insufficient response to IFN-α/β, interleukin (IL)-6, IL-10, IL-12 and IL-23. Herein, we describe a case of Mycobacterium intracellulare infection in a male with abdominal pain and diarrhea. Whole exome sequencing of the genomes revealed a compound heterozygous mutation (c.3083A>G/c.2590C>T, p.N1028S/p.R864C) in the TYK2 gene. The patient recovered after two years of anti-mycobacterial treatment and no relapse was observed so far. We also reviewed 24 cases of mycobacterial infection associated with TYK2 deficiency which provides evidence of how personalised genomics can improve outcomes.