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Disseminated Mycobacterium simiae Infection in a Patient with Complete IL-12p40 Deficiency.
Mahdaviani, Seyed Alireza; Marjani, Majid; Jamee, Mahnaz; Khavandegar, Armin; Ghaffaripour, Hosseinali; Eslamian, Golnaz; Ghaini, Mehdi; Eskandarzadeh, Shabnam; Casanova, Jean-Laurent; Bustamante, Jacinta; Mansouri, Davood; Velayati, Ali Akbar.
Afiliação
  • Mahdaviani SA; Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran. mahdavini@yahoo.com.
  • Marjani M; Clinical Tuberculosis and Epidemiology Research Centre, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran. marjani216@hotmail.com.
  • Jamee M; 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 Medic
  • Khavandegar A; Student Research Committee, Alborz University of Medical Sciences, Karaj, Iran. arminkhavandegar@yahoo.com.
  • Ghaffaripour H; Clinical Tuberculosis and Epidemiology Research Centre, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran. Ho_ghaffaripour@yahoo.com.
  • Eslamian G; Department of Immunology and Allergy, Mofid Children's Hospital, Shahid Beheshti University of Medical Science, Tehran, Iran. Dr-g.eslamian@yahoo.com.
  • Ghaini M; Department of Immunology and Allergy, Mofid Children's Hospital, Shahid Beheshti University of Medical Science, Tehran, Iran. mehdighaini1396@gmail.com.
  • Eskandarzadeh S; Department of Immunology and Allergy, Mofid Children's Hospital, Shahid Beheshti University of Medical Science, Tehran, Iran. s_eskandarzadeh@yahoo.com.
  • Casanova JL; 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, U
  • Bustamante J; 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, U
  • Mansouri D; 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 Diseas
  • Velayati AA; Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran. aavelayati@sbmu.ac.ir.
Iran J Allergy Asthma Immunol ; 20(3): 376-381, 2021 Jun 06.
Article em En | MEDLINE | ID: mdl-34134458
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-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.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Hospedeiro Imunocomprometido / Subunidade p40 da Interleucina-12 / Doenças da Imunodeficiência Primária / Mycobacterium / Infecções por Mycobacterium Idioma: En Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Irã
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Hospedeiro Imunocomprometido / Subunidade p40 da Interleucina-12 / Doenças da Imunodeficiência Primária / Mycobacterium / Infecções por Mycobacterium Idioma: En Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Irã