Article
Novel RAG1 mutation and the occurrence of mycobacterial and Chromobacterium violaceum infections in a case of leaky SCID.
Microbial pathogenesis - 1 Aug 2017
Khan Taj Ali, Iqbal Asif, Rahman Hazir, Cabral-Marques Otavio, Ishfaq Muhammad, Muhammad Noor
Abstract excerpt
Severe combined immunodeficiency (SCID) is a potentially fatal primary immunodeficiency (PID) that is caused by mutations in genes such as IL2RG, JAK3, IL7RA, RAG1, RAG2, and ADA. The products of these genes are involved in the development of several immune cells such as T, B and natural killer (NK) cells. Most of the SCID forms are autosomal recessive with the exception of IL2RG defects that cause an X-linked...
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