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

Iranian Journal of Allergy, Asthma and Immunology (Jun 2021)

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

Affiliations

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 AND Pediatric Infections Research Center, Research Institute for Children’s Health, 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 AND St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, USA AND Pediatric Hematology and Immunology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France AND Howard Hughes Medical Institute, New York, USA
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 AND St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, USA AND Center for the Study of Primary Immunodeficiencies, Necker Hospital for Sick Children, AP-HP, 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 AND Clinical Tuberculosis and Epidemiology Research Centre, 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
Journal volume & issue: Vol. 20, no. 3

Abstract

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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.

Published in Iranian Journal of Allergy, Asthma and Immunology

ISSN: 1735-1502 (Print); 1735-5249 (Online)
Publisher: Tehran University of Medical Sciences
Country of publisher: Iran, Islamic Republic of
LCC subjects: Medicine
Website: https://ijaai.tums.ac.ir

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