Case Report

Novel RAG2 Mutation in a Patient with Leaky Severe Combined Immunodeficiency


T and B lymphocytes development and function are highly dependent on Recombination Activating Genes (RAG) 1 and 2. RAG mutations result in different degrees of T and B cell impaired function, broad clinical manifestations, and immunological manifestations. Pathogenic mutations cause severe combined immunodeficiency (SCID) phenotype, while hypomorphic mutations are responsible for leaky or partial SCID.
Here, we described a 4-year-old girl who had a persistent diarrhea, recurrent infection, and vomiting. Although physicians were suspicious about autoimmune enteropathy, her molecular report showed a homozygous and novel RAG2 mutation in its core domain. The number of CD4 T cells and IgA level were lower than normal ranges. Lack of IgA brought about different GI complications. Our patient died finally because of liver and gallbladder failure.

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IssueVol 4, No 4 (2021) QRcode
SectionCase Report
RAG2 Combined Immunodeficiency Severe Combined Immunodeficiency Primary Immunodeficiency IgA Deficiency

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How to Cite
Pashangzadeh S, Yazdani R, Delavari S, Abolhassani H, Parvaneh N. Novel RAG2 Mutation in a Patient with Leaky Severe Combined Immunodeficiency. Immunol Genet J. 2021;4(4):203-210.