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-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.

Citation

Seyed Alireza Mahdaviani, Majid Marjani, Mahnaz Jamee, Armin Khavandegar, Hosseinali Ghaffaripour, Golnaz Eslamian, Mehdi Ghaini, Shabnam Eskandarzadeh, Jean-Laurent Casanova, Jacinta Bustamante, Davood Mansouri, Ali Akbar Velayati. Disseminated Mycobacterium simiae Infection in a Patient with Complete IL-12p40 Deficiency. Iranian journal of allergy, asthma, and immunology. 2021 Jun 06;20(3):376-381

Mesh Tags

Substances

PMID: 34134458

search → result