Molecular complementation of IL-12Rβ1 deficiency reveals functional differences between IL-12Rβ1 alleles including partial IL-12Rβ1 deficiency
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چکیده
منابع مشابه
IL-12Rβ1 Deficiency in Two of Fifty Children with Severe Tuberculosis from Iran, Morocco, and Turkey
BACKGROUND AND OBJECTIVES In the last decade, autosomal recessive IL-12Rβ1 deficiency has been diagnosed in four children with severe tuberculosis from three unrelated families from Morocco, Spain, and Turkey, providing proof-of-principle that tuberculosis in otherwise healthy children may result from single-gene inborn errors of immunity. We aimed to estimate the fraction of children developin...
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...
متن کاملGenetic Variations of IL-12B, IL-12Rβ1, IL-12Rβ2 in Behcet's Disease and VKH Syndrome
PURPOSE To investigate the associations of single nucleotide polymorphisms (SNPs) of three genes (IL-12B, IL-12Rβ1 and IL-12Rβ2) in Behcet's disease (BD) and Vogt-Koyanagi-Harada (VKH) syndrome in a Chinese Han population. METHODS A total of 806 BD cases, 820 VKH patients, and 1600 healthy controls were involved in this study. The first investigation included 400 BD patients, 400 VKH cases, a...
متن کاملThe R156H variation in IL-12Rβ1 is not a mutation
Palamaro et al. describe a child with recurrent bronchopneumonia and very high IgE levels in which a variation, R156H, was found in the IL12RB1 gene that encodes the IL-12Rβ1 chain. Based on the absence of this variation in 50 unrelated individuals they conclude it is a mutation. We (van de Vosse and van Dissel) feel there is no reason to suspect a defect in IL-12 signaling based on the clinica...
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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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2005
ISSN: 1460-2083,0964-6906
DOI: 10.1093/hmg/ddi409