Author/Authors :
Mahdaviani ، Alireza Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD) - Shahid Beheshti University of Medical Sciences , Marjani ، Majid Clinical Tuberculosis and Epidemiology Research Centre, National Research Institute of Tuberculosis and Lung Diseases (NRITLD) - Shahid Beheshti University of Medical Sciences , Jamee ، Mahnaz Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Pediatric Infections Research Center, Research Institute for Children’s Health - Shahid Beheshti University of Medical Sciences , Khavandegar ، Armin Student Research Committee - Alborz University of Medical Sciences , Ghaffaripour ، Hosseinali Clinical Tuberculosis and Epidemiology Research Centre, National Research Institute of Tuberculosis and Lung Diseases (NRITLD) - Shahid Beheshti University of Medical Sciences , Eslamian ، Golnaz Department of Immunology and Allergy - Mofid Children s Hospital - Shahid Beheshti University of Medical Science , Ghaini ، Mehdi Department of Immunology and Allergy - Mofid Children s Hospital - Shahid Beheshti University of Medical Science , Eskandarzadeh ، Shabnam Department of Immunology and Allergy - Mofid Children s Hospital - Shahid Beheshti University of Medical Science , Casanova ، Jean-Laurent Laboratory of Human Genetics of Infectious Diseases - Necker Hospital for Sick Children, Imagine Institute - University of Paris, Necker Branch , Bustamante ، Jacinta Laboratory of Human Genetics of Infectious Diseases - Necker Hospital for Sick Children, Imagine Institute - University of Paris, Necker Branch , Mansouri ، Davood Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Clinical Tuberculosis and Epidemiology Research Centre - Shahid Beheshti University of Medical Sciences , Velayati ، Ali Akbar Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD) - Shahid Beheshti University of Medical Sciences
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 CalmetteGu #xE9;rin (BCG). Herein, we described the case of a 4.5yearold boy with proteinlosing 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 IL12p40 deficiency. He was resistant to antimycobacterial treatment and finally died due to sepsisrelated complications.
