title: Mutations in Recombination Activating Gene 1 and 2 in patients with severe combined immunodeficiency disorders in Egypt.
abstract: The Recombination Activating Genes (RAG) 1/2 are important for the development and function of T and B cells. Loss of RAG1/2 function results in severe combined immunodeficiency (SCID), which could lead to early death. We studied the prevalence of RAG1/2 mutations in ten SCID patients in Egypt. We identified two novel homozygous nonsense mutations in RAG1, a novel homozygous deletion, and a previously reported homozygous missense mutation from four patients, as well as two homozygous mutations in RAG2 from the same patient. Prenatal diagnosis performed in the mother of a patient with RAG1 deficiency determined that the fetus was heterozygous for the same mutation. This represents the first report on RAG1/2 mutations in SCID patients in Egypt. The early diagnosis dramatically affects the outcome of the disease by allowing bone marrow transplantation at an early age, and providing prenatal diagnosis and genetic counseling for families with a history of SCID.
authors: Department of Clinical and Chemical Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt.
authors: Safa
authors: S
authors: Meshaal
authors: Department of Clinical and Chemical Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt.
authors: Rabab
authors: R
authors: El Hawary
authors: Department of Clinical and Chemical Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt.
authors: Marwa
authors: M
authors: Elsharkawy
authors: Department of Clinical and Chemical Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt.
authors: Reem K
authors: RK
authors: Mousa
authors: Department of Clinical and Chemical Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt.
authors: Reem J
authors: RJ
authors: Farid
authors: Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt.
authors: Dalia
authors: D
authors: Abd Elaziz
authors: Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt.
authors: Radwa
authors: R
authors: Alkady
authors: Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt.
authors: Nermeen
authors: N
authors: Galal
authors: Division of Immunology, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA. Electronic address: michel.massaad@childrens.harvard.edu.
authors: Michel J
authors: MJ
authors: Massaad
authors: Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt.
authors: Jeannette
authors: J
authors: Boutros
authors: Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt.
authors: Aisha
authors: A
authors: Elmarsafy
mesh_terms: D002675:Child, Preschool; D004268:DNA-Binding Proteins / Q000235:genetics / Q000378:metabolism*; D004534:Egypt / Q000453:epidemiology; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics / Q000378:metabolism*; D016511:Severe Combined Immunodeficiency / Q000453:epidemiology* / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; D018398:Homeodomain Proteins; D009687:Nuclear Proteins; C499311:RAG2 protein, human; C064658:RAG-1 protein
keywords: Egypt; Omenn syndrome; Prenatal diagnosis; RAG; Severe combined immunodeficiency