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disseminated mycobacterium simiae infection in a patient with complete il-12p40 deficiency
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نویسنده
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mahdaviani 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
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منبع
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iranian journal of allergy, asthma and immunology - 2021 - دوره : 20 - شماره : 3 - صفحه:376 -381
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چکیده
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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 calmetteguérin (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.
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کلیدواژه
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mycobacterium simiae ,primary immunodeficiency
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آدرس
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shahid beheshti university of medical sciences, pediatric respiratory diseases research center, national research institute of tuberculosis and lung diseases (nritld), iran, shahid beheshti university of medical sciences, clinical tuberculosis and epidemiology research centre, national research institute of tuberculosis and lung diseases (nritld), iran, shahid beheshti university of medical sciences, pediatric respiratory diseases research center, national research institute of tuberculosis and lung diseases (nritld), pediatric infections research center, research institute for children’s health, iran. shahid beheshti university of medical sciences, iran, alborz university of medical sciences, student research committee, iran, shahid beheshti university of medical sciences, clinical tuberculosis and epidemiology research centre, national research institute of tuberculosis and lung diseases (nritld), iran, shahid beheshti university of medical science, mofid children's hospital, department of immunology and allergy, iran, shahid beheshti university of medical science, mofid children's hospital, department of immunology and allergy, iran, shahid beheshti university of medical science, mofid children's hospital, department of immunology and allergy, iran, university of paris, necker branch, necker hospital for sick children, imagine institute, laboratory of human genetics of infectious diseases, france. rockefeller university, rockefeller branch, st. giles laboratory of human genetics of infectious diseases, usa. necker hospital for sick children, pediatric hematology and immunology unit, france. howard hughes medical institute, usa, university of paris, necker branch, necker hospital for sick children, imagine institute, laboratory of human genetics of infectious diseases, france. rockefeller university, rockefeller branch, st. giles laboratory of human genetics of infectious diseases, usa. necker hospital for sick children, center for the study of primary immunodeficiencies, france, shahid beheshti university of medical sciences, pediatric respiratory diseases research center, national research institute of tuberculosis and lung diseases (nritld), clinical tuberculosis and epidemiology research centre, iran, shahid beheshti university of medical sciences, pediatric respiratory diseases research center, national research institute of tuberculosis and lung diseases (nritld), iran
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پست الکترونیکی
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aavelayati@sbmu.ac.ir
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Authors
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