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

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

doi:10.18502/ijaai.v20i3.6339

Seyed Alireza Mahdaviani Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran
Majid Marjani Clinical Tuberculosis and Epidemiology Research Centre, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran
Mahnaz Jamee Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran
Armin Khavandegar Student Research Committee, Alborz University of Medical Sciences, Karaj, Iran
Hosseinali Ghaffaripour Clinical Tuberculosis and Epidemiology Research Centre, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran
Golnaz Eslamian Department of Immunology and Allergy, Mofid Children's Hospital, Shahid Beheshti University of Medical Science, Tehran, Iran
Mehdi Ghaini Department of Immunology and Allergy, Mofid Children's Hospital, Shahid Beheshti University of Medical Science, Tehran, Iran
Shabnam Eskandarzadeh Department of Immunology and Allergy, Mofid Children's Hospital, Shahid Beheshti University of Medical Science, Tehran, Iran
Jean-Laurent Casanova Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Necker Hospital for Sick Children, University of Paris, Imagine Institute, Paris, France
Jacinta Bustamante Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Necker Hospital for Sick Children, University of Paris, Imagine Institute, Paris, France
Davood Mansouri Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran
Ali Akbar Velayati Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran

DOI: https://doi.org/10.18502/ijaai.v20i3.6339

Keywords: Mycobacterium simiae; Primary immunodeficiency

Abstract

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.