1. Mycobacterium Intracellulare Infection Associated with TYK2 Deficiency: A Case Report and Review of the Literature
- Author
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Mohamed Shehata Draz, Pei Shi, Ming Hu, Yanwan Shangguan, Xuewen Feng, Meifang Yang, Wanru Guo, Kaijin Xu, and Shuting Wang
- Subjects
0301 basic medicine ,Pharmacology ,Mutation ,biology ,business.industry ,030106 microbiology ,Interleukin ,biology.organism_classification ,Compound heterozygosity ,medicine.disease_cause ,03 medical and health sciences ,0302 clinical medicine ,Infectious Diseases ,Interferon ,Tyrosine kinase 2 ,Immunology ,medicine ,Pharmacology (medical) ,Nontuberculous mycobacteria ,030212 general & internal medicine ,business ,Exome sequencing ,Mycobacterium ,medicine.drug - Abstract
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.
- Published
- 2020
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