Susceptibility to mycobacterial disease due to mutations in IL-12Rβ1 in three Iranian patients
نویسندگان
چکیده
منابع مشابه
Mendelian Susceptibility to Mycobacterial Disease due to IL-12Rβ1 Deficiency in Three Iranian Children
Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare inheritance syndrome, characterized by a disseminated infection with mycobacterium in children following BCG vaccination at birth. Regarding the vaccination program in Iran, it may consider as a public health problem. The pathogenesis of MSMD is dependent on either insufficient production of IFN-gamma (γ) or inadequate response...
متن کاملmendelian susceptibility to mycobacterial disease due to il-12rβ1 deficiency in three iranian children
mendelian susceptibility to mycobacterial diseases (msmd) is a rare inheritance syndrome, characterized by a disseminated infection with mycobacterium in children following bcg vaccination at birth. regarding the vaccination program in iran, it may consider as a public health problem. the pathogenesis of msmd is dependent on either insufficient production of ifn-gamma (γ) or inadequate response...
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Background: Tay-Sachs disease (TSD), or GM2 gangliosidosis, is a lethal autosomal recessive neurodegenerative disorder, which is caused by a deficiency of beta-hexosaminidase A (HEXA), resulting in lysosomal accumulation of GM2 ganglioside. The aim of this study was to identify the TSD-causing mutations in an Iranian population. Methods: In this study, we examined 31 patients for TSD-causing m...
متن کاملImpaired in-vitro responses to IL-12 and IFN-γ in Iranian patients with Mendelian susceptibility to mycobacterial disease.
INTRODUCTION Diagnosis of specific molecular defects of Mendelian susceptibility to mycobacterial diseases (MSMD) patients is important with respect to their clinical outcomes and their response to therapy. The aim of this study was to perform functional tests on blood samples of a group of patients who were suspected of having MSMD. METHODS This study was performed on 11 cases who had mycoba...
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ژورنال
عنوان ژورنال: Immunogenetics
سال: 2017
ISSN: 0093-7711,1432-1211
DOI: 10.1007/s00251-017-1041-3