title: 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.
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.
authors.affiliation: Department of Pediatric Immunology, Erciyes University School of Medicine, Kayseri, Turkey.
authors.forename: Turkan
authors.initials: T
authors.lastname: Patiroglu
authors.forename: H Haluk
authors.initials: HH
authors.lastname: Akar
authors.forename: Kimberly
authors.initials: K
authors.lastname: Gilmour
authors.forename: M Akif
authors.initials: MA
authors.lastname: Ozdemir
authors.forename: Shahnaz
authors.initials: S
authors.lastname: Bibi
authors.forename: Frances
authors.initials: F
authors.lastname: Henriquez
authors.forename: Siobhan O
authors.initials: SO
authors.lastname: Burns
authors.forename: Ekrem
authors.initials: E
authors.lastname: Unal
mesh_terms: D000293:Adolescent; D001402:B-Lymphocytes / Q000276:immunology* / Q000473:pathology; D001996:Bronchopneumonia / Q000209:etiology / Q000235:genetics / Q000628:therapy*; D002648:Child; D003241:Consanguinity; D016572:Cyclosporine / Q000008:administration & dosage*; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D018380:Hematopoietic Stem Cell Transplantation; D018398:Homeodomain Proteins / Q000235:genetics; D006720:Homozygote; D006801:Humans; D007299:Insect Bites and Stings / Q000150:complications / Q000235:genetics / Q000628:therapy*; D009154:Mutation / Q000235:genetics; D019637:Orthopedic Procedures; D017511:Pyoderma Gangrenosum / Q000209:etiology / Q000235:genetics / Q000628:therapy*; D016511:Severe Combined Immunodeficiency / Q000150:complications / Q000235:genetics / Q000628:therapy*; D013256:Steroids / Q000008:administration & dosage*
chemical_list: D018398:Homeodomain Proteins; D013256:Steroids; C064658:RAG-1 protein; D016572:Cyclosporine
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