title: Omenn syndrome with mutation in RAG1 gene.
abstract: Omenn syndrome is a form of severe combined immunodeficiency associated with erythrodermia, hepatosplenomegaly, lymphadenopathy, and alopecia. Inherited hypomorphic mutations in the recombination activating genes 1 and 2 (RAG1 and RAG2) and in ARTEMIS genes and more recently defects in IL7RA, and RMRP genes have been described to be responsible of this peculiar immunodeficiency. The authors report here a Moroccan patient of four-months-old with classical features of Omenn syndrome, carrying a deletion at the N terminal part of RAG1. Early recognition of this condition is important for genetic counseling and early treatment.
authors.affiliation: Department of Medical Genetics, National Institute of Health, Rabat, Morocco. imane_cj@yahoo.fr
authors.forename: I Cherkaoui
authors.initials: IC
authors.lastname: Jaouad
authors.forename: K
authors.initials: K
authors.lastname: Ouldim
authors.forename: S
authors.initials: S
authors.lastname: Ali Ou Alla
authors.forename: Y
authors.initials: Y
authors.lastname: Kriouile
authors.forename: A
authors.initials: A
authors.lastname: Villa
authors.forename: A
authors.initials: A
authors.lastname: Sefiani
mesh_terms: D000505:Alopecia / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics*; D003873:Dermatitis, Exfoliative / Q000235:genetics; D005260:Female; D015329:Gene Rearrangement, T-Lymphocyte; D006529:Hepatomegaly / Q000235:genetics; D006579:Heterozygote; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D008206:Lymphatic Diseases / Q000235:genetics; D009018:Morocco; D009154:Mutation / Q000235:genetics* / Q000276:immunology; D009687:Nuclear Proteins / Q000235:genetics*; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis* / Q000235:genetics; D013163:Splenomegaly / Q000235:genetics; D013577:Syndrome
chemical_list: D004268:DNA-Binding Proteins; D018398:Homeodomain Proteins; D009687:Nuclear Proteins; C499311:RAG2 protein, human; C064658:RAG-1 protein