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

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-yearold boy with protein-losing...

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Published inIranian journal of allergy, asthma, and immunology Vol. 20; no. 3
Main Authors Mahdaviani, Seyed Alireza, Marjani, Majid, Jamee, Mahnaz, Khavandegar, Armin, Ghaffaripour, Hosseinali, Eslamian, Golnaz, Ghaini, Mehdi, Eskandarzadeh, Shabnam, Casanova, Jean-Laurent, Bustamante, Jacinta, Mansouri, Davood, Velayati, Ali Akbar
Format Journal Article
LanguageEnglish
Published Tehran University of Medical Sciences 01.06.2021
Subjects
Mycobacterium simiae
Primary immunodeficiency
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Summary: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-yearold 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.
ISSN:1735-1502
1735-5249
DOI:10.18502/ijaai.v20i3.6339