Article
Atypical severe combined immunodeficiency caused by a novel homozygous mutation in Rag1 gene in a girl who presented with pyoderma gangrenosum: a case report and literature review.
Journal of clinical immunology - 1 Oct 2014
Patiroglu Turkan, Akar H Haluk, Gilmour Kimberly, Ozdemir M Akif, Bibi Shahnaz, Henriquez Frances, Burns Siobhan O, Unal Ekrem
Abstract excerpt
Severe combined immunodeficiency (SCID) is a heterogeneous group of inherited defects involving the development of T- and/or B-lymphocytes. We report a female with atypical severe combined immunodeficiency caused by a novel homozygous mutation at cDNA position 2290 (c.2290C > T) in exon 2 of the RAG1 gene. The patient presented with bronchopneumonia, pyoderma gangrenosum (PG), pancytopenia and splenomegaly. She...
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