Case Report

Disseminated Mycobacterium simiae Infection in a Patient with Complete IL-12p40 Deficiency

Mycobacterium simiae Infection in Mendelian Susceptibility to Mycobacterial Disease


Mendelian susceptibility to mycobacterial disease (MSMD) is a rare group of genetic disorders characterized by infections with weakly virulent environmental mycobacteria (EM) or Mycobacterium bovis bacillus Calmette-Guérin (BCG). Herein, we described the case of a 4.5-year-old boy with protein-losing enteropathy, lymphoproliferation, and candidiasis, who was found to have disseminated Mycobacterium simiae infection. A homozygous mutation in the IL12B gene, c.527_528delCT (p.S176Cfs*12) was identified, responsible for the complete IL-12p40 deficiency. He was resistant to anti-mycobacterial treatment and finally died due to sepsis-related complications.

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IssueVol 20 No 3 (2021) QRcode
SectionCase Report(s)
Mycobacterium simiae Primary immunodeficiency

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How to Cite
Mahdaviani SA, Marjani M, Jamee M, Khavandegar A, Ghaffaripour H, Eslamian G, Ghaini M, Eskandarzadeh S, Casanova J-L, Bustamante J, Mansouri D, Velayati AA. Disseminated Mycobacterium simiae Infection in a Patient with Complete IL-12p40 Deficiency. Iran J Allergy Asthma Immunol. 20(3):376-381.