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Case Reports
. 2020 Dec 2:13:4347-4353.
doi: 10.2147/IDR.S279438. eCollection 2020.

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

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 Xu  1
Affiliations
Case Reports

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

Wanru Guo et al. Infect Drug Resist. .

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.

Keywords: Mycobacterium intracellulare infection; TYK2 deficiency; case report; genetic testing; treatment.

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Conflict of interest statement

The authors declare that they have no conflicts of interest in this work.

Figures

Figure 1
Figure 1
Hematoxylin and eosin stain (H&E) of biopsy specimens. (A) Intestinal biopsy specimen revealed acid-fast bacilli. (B) Intestinal biopsy specimen showed acid-fast bacilli (arrows). (C) Lymph node biopsy specimen revealed acid-fast bacilli. (D) Lymph node biopsy specimen showed acid-fast bacilli (arrows). (E) Bronchial biopsy specimen revealed acid-fast bacilli. (F) Bronchial biopsy specimen showed acid-fast bacilli (arrow). Original magnifications: (A) 100X; (B, D and F) 1000X; (C and E) 200X.
Figure 2
Figure 2
Computed tomography and Bronchoscopy findings. (A) Chest CT showed a nodular lesion in the right main bronchus (arrow). (B) Abdominal CT showed a mass in the right lower abdomen (arrow). (C) Bronchoscopy showed nodules in the right bronchus (arrow). (D) The nodule in the right bronchus was smaller after five months of treatment (arrow).
Figure 3
Figure 3
Identification of TYK2 compound heterozygous mutation. (A) Validation by Sanger sequencing of theTYK2 mutations in the patient and his parents. (B) Pedigree of a family in our case. Squares and circles indicate males and females, respectively. Darkened symbols represent the affected individuals. The proband is indicated by an arrow. W, wild-type; M1, c.3083A>G (p.N1028S); M2, c.2590C>T (p. R864C).
See this image and copyright information in PMC

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