title: Three faces of recombination activating gene 1 (RAG1) mutations.
abstract: Severe combined immune deficiency (SCID) is a group of genetic disorder associated with development of T- and/or B-lymphocytes. Recombination-activating genes (RAG1/2) play a critical role on VDJ recombination process that leads to the production of a broad T-cell receptor (TCR) and B-cell receptor (BCR) repertoire in the development of T and B cells. RAG1/2 genes mutations result in various forms of primary immunodeficiency, ranging from classic SCID to Omenn syndrome (OS) to atypical SCID with such as granuloma formation and autoimmunity. Herein, we reported 4 patients with RAG1 deficiency: classic SCID was seen in two patients who presented with recurrent pneumonia and chronic diarrhoea, and failure to thrive. OS was observed in one patient who presented with chronic diarrhoea, skin rash, recurrent lower respiratory infections, and atypical SCID was seen in one patient who presented with Pyoderma gangrenosum (PG) and had novel RAG1 mutation.
authors.affiliation: Erciyes University School of Medicine, Department of Pediatric Immunology , Kayseri , Turkey.|Erciyes University School of Medicine, Department of Pediatric Hematology and Oncology , Kayseri , Turkey.
authors.forename: Turkan
authors.initials: T
authors.lastname: Patiroglu
authors.affiliation: Erciyes University School of Medicine, Department of Pediatric Immunology , Kayseri , Turkey.
authors.forename: Himmet Haluk
authors.initials: HH
authors.lastname: Akar
authors.affiliation: Department of Erasmus MC, University Medical Center Rotterdam , Rotterdam , Netherlands.
authors.forename: Mirjam
authors.initials: M
authors.lastname: Van Der Burg
mesh_terms: D000293:Adolescent; D001402:B-Lymphocytes / Q000276:immunology; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics* / Q000276:immunology; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D016511:Severe Combined Immunodeficiency / Q000201:enzymology* / Q000235:genetics / Q000276:immunology / Q000628:therapy; D013601:T-Lymphocytes / Q000276:immunology
chemical_list: D018398:Homeodomain Proteins; C064658:RAG-1 protein
keywords: Omenn syndrome; RAG1 mutation; atypical SCID; classic SCID