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


PATIROĞLU T. , AKAR H. H. , Gilmour K., ÖZDEMİR M. , Bibi S., Henriquez F., ...More

JOURNAL OF CLINICAL IMMUNOLOGY, vol.34, no.7, pp.792-795, 2014 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Review
  • Volume: 34 Issue: 7
  • Publication Date: 2014
  • Doi Number: 10.1007/s10875-014-0077-5
  • Title of Journal : JOURNAL OF CLINICAL IMMUNOLOGY
  • Page Numbers: pp.792-795
  • Keywords: Atypical severe combined immunodeficiency, RAG1 gene, pyoderma gangrenosum, AUTOIMMUNITY, SPECTRUM

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.