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- W4313366182 abstract "Abstract Genetic immune pathologies are common in Azerbaijan. Primary immune deficiencies (PID) include more than 300 rare congenital diseases. There are more than 250 genes known to be involved in different immune disorders, especially in PID. Around 30% of patients are not diagnosed on time despite having clinical and laboratory evidences. Primary immunodeficiency disorders may be caused by mutations in one or several specific genes. The exact diagnosis of PID patients requires genetic analysis. The diagnosis is not always made timely because genetic tests are not carried out in many countries like Azerbaijan and are quite expensive. We present data of clinical and genetic analyses PIDs in Azerbaijan. During 2010–2019 we studied 111 PID patients. Genetic results obtained from 18 of these patients revealed that the mutations were located mainly in 7 groups of genes. These genetic mutations had clinical manifestations in the form of PID variants, i.e., WAS syndrome, X link agammaglobulinemia, HIGM syndrome, and Ataxia-Telangiectasia. AT patients were analyzed through linkage analysis with D11S384, D11S2179 and D11S1294 genetic markers. Immune analyses included; phenotyping of leucocyte subset in peripheral blood, serum IgM, IgG, IgA, IgE levels, phagocytic activity of neutrophils by NBT. Additional tests such as X-ray, computer tomography and ultrasound investigations were used. Genotyping of mutations was performed through sequence-based methods. In PID patients mutations in the following genes were identified; CCCG>C deletion on TBX1 gene, c.12_13insGG hemizygous mutation on exon 1 of WAS gene, Gln234stop mutation and T>A SNP on 100614289 location of BTKgene, c.6010C>T and c.6671G>A mutations on LRBAgene, c.135T>A on CD40LGgene." @default.
- W4313366182 created "2023-01-06" @default.
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- W4313366182 date "2019-05-01" @default.
- W4313366182 modified "2023-09-26" @default.
- W4313366182 title "Genetic Immune Pathologies Are Common in Azerbaijan" @default.
- W4313366182 doi "https://doi.org/10.4049/jimmunol.202.supp.182.5" @default.
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