title: Evolution of a T-B- SCID into an Omenn syndrome phenotype following parainfluenza 3 virus infection.
abstract: Mutations in both of the recombination activating genes (RAG)1 and RAG2 can lead to either T-B-severe combined immune deficiency (SCID) or Omenn syndrome (OS), two diseases presenting with totally different clinical and laboratory manifestations. The fact that the same mutations can cause either T-B- SCID or OS, even within the same family, lends credibility to the hypothesis that an additional factor (autoantigen or exoantigen) is required in certain circumstances for the development of OS phenotype. We investigated three patients from the same extended family who presented as T-B- SCID due to a homozygous mutation (G1305T) in the RAG2 gene. Our data support the notion that mutated RAG proteins may not always be sufficient to cause OS phenotype, and show evolution from a T-B- SCID into a typical OS phenotype subsequent to parainfluenza 3 virus infection.
authors.affiliation: Pediatric Infectious, Allergy, Immunology Unit, E. Wolfson Medical Center, Holon, Israel. ilandalal@hotmail.com
authors.forename: Ilan
authors.initials: I
authors.lastname: Dalal
authors.forename: Uri
authors.initials: U
authors.lastname: Tabori
authors.forename: Bela
authors.initials: B
authors.lastname: Bielorai
authors.forename: Hana
authors.initials: H
authors.lastname: Golan
authors.forename: Eli
authors.initials: E
authors.lastname: Rosenthal
authors.forename: Ninette
authors.initials: N
authors.lastname: Amariglio
authors.forename: Gidi
authors.initials: G
authors.lastname: Rechavi
authors.forename: Amos
authors.initials: A
authors.lastname: Toren
mesh_terms: D001402:B-Lymphocytes / Q000276:immunology; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics* / Q000276:immunology; D017809:Fatal Outcome; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics* / Q000276:immunology; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D009687:Nuclear Proteins; D010224:Parainfluenza Virus 3, Human; D016133:Polymerase Chain Reaction; D010253:Respirovirus Infections / Q000235:genetics* / Q000276:immunology; D017422:Sequence Analysis, DNA; D016511:Severe Combined Immunodeficiency / Q000235:genetics* / Q000276:immunology / Q000821:virology; D013601:T-Lymphocytes / Q000276:immunology
chemical_list: D004268:DNA-Binding Proteins; D018398:Homeodomain Proteins; D009687:Nuclear Proteins; C499311:RAG2 protein, human; C064655:V(D)J recombination activating protein 2; C064658:RAG-1 protein; D004247:DNA