Mycobacterium Intracellulare Infection Associated with TYK2 Deficiency: A Case Report and Review of the Literature

Abstract

Wanru Guo,1 Xuewen Feng,1 Meifang Yang,1 Yanwan Shangguan,1 Pei Shi,1 Shuting Wang,1 Ming Hu,1 Mohamed S Draz,2 Kaijin Xu1 1State Key Laboratory for Diagnosis and Treatment of Infectious Diseases, National Clinical Research Center for Infectious Diseases, Collaborative Innovation Center for Diagnosis and Treatment of Infectious Diseases, The First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, People’s Republic of China; 2Department of Medicine, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, USACorrespondence: Kaijin Xu Email [email protected]: 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.Keywords: TYK2 deficiency, Mycobacterium intracellulare infection, case report, genetic testing, treatment

Keywords

• tyk2 deficiency
• mycobacterium intracellulare infection
• case report
• genetic testing
• treatment