Atypical severe combined immunodeficiency caused by a novel homozygous mutation in Rag1 gene in a girl who presented with pyoderma gangrenosum: a case …
T Patiroglu, HH Akar, K Gilmour, MA Ozdemir… - Journal of clinical …, 2014 - Springer
Journal of clinical immunology, 2014•Springer
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
presented to us with pancytopenia and splenomegaly at the age of 11. Her condition was …
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
presented to us with pancytopenia and splenomegaly at the age of 11. Her condition was …
Abstract
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 presented to us with pancytopenia and splenomegaly at the age of 11. Her condition was complicated by PG on left lower ankle at the age of 12. She experienced bronchopneumonia at the age of 15. She was diagnosed with RAG1 deficiency at the age of 16. Her immunological presentation included leucopenia and diminished number of B cells.
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