Article
Mutations in Recombination Activating Gene 1 and 2 in patients with severe combined immunodeficiency disorders in Egypt.
Clinical immunology (Orlando, Fla.) - 1 Jun 2015
Meshaal Safa, El Hawary Rabab, Elsharkawy Marwa, Mousa Reem K, Farid Reem J, Abd Elaziz Dalia, Alkady Radwa, Galal Nermeen, Massaad Michel J, Boutros Jeannette, Elmarsafy Aisha
Abstract excerpt
The Recombination Activating Genes (RAG) 1/2 are important for the development and function of T and B cells. Loss of RAG1/2 function results in severe combined immunodeficiency (SCID), which could lead to early death. We studied the prevalence of RAG1/2 mutations in ten SCID patients in Egypt. We identified two novel homozygous nonsense mutations in RAG1, a novel homozygous deletion, and a previously reported...
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