Open AccessDisseminated Mycobacterium simiae Infection in a Patient with Complete IL-12p40 Deficiency
Author(s) -
Seyed Alireza Mahdaviani,
Majid Marjani,
Mahnaz Jamee,
Armin Khavandegar,
Hosseinali Ghaffaripour,
Golnaz Eslamian,
Mehdi Ghaini,
Shabnam Eskandarzadeh,
JeanLaurent Casanova,
Jacinta Bustamante,
Davood Mansouri,
Ali Akbar Velayati
Publication year - 2021
Publication title -
iranian journal of allergy, asthma and immunology
Language(s) - English
Resource type - Journals
eISSN - 1735-5249
pISSN - 1735-1502
DOI - 10.18502/ijaai.v20i3.6339
Subject(s) - mycobacterium bovis , virulence , mycobacterium , sepsis , microbiology and biotechnology , enteropathy , biology , immunology , disease , medicine , mycobacterium tuberculosis , virology , gene , tuberculosis , genetics , pathology
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.