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Iranian Journal of Allergy, Asthma and Immunology، جلد ۲۰، شماره ۳، صفحات ۳۷۶-۳۸۱

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عنوان انگلیسی Disseminated Mycobacterium simiae Infection in a Patient with Complete IL-12p40 Deficiency
چکیده انگلیسی مقاله 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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نویسندگان مقاله | 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



نشانی اینترنتی https://ijaai.tums.ac.ir/index.php/ijaai/article/view/2845
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