title: An immunodeficiency disease with RAG mutations and granulomas.
abstract: We describe three unrelated girls who had an immunodeficiency disease with granulomas in the skin, mucous membranes, and internal organs. All three girls had severe complications after viral infections, including B-cell lymphoma associated with Epstein-Barr virus (EBV). Other findings were hypogammaglobulinemia, a diminished number of T and B cells, and sparse thymic tissue on ultrasonography. Molecular analysis revealed that the patients were compound heterozygotes for mutations in recombination activating gene 1 or 2 (RAG1 or RAG2). In each case, both parents were heterozygous carriers of a RAG mutation. The mutations were associated with reduced function of RAG in vitro (3 to 30% of normal activity). The parents and one sibling in the three families were healthy.
authors.affiliation: Department of Pediatrics and Adolescent Medicine, University Hospital Ulm, Ulm, Germany.
authors.forename: Catharina
authors.initials: C
authors.lastname: Schuetz
authors.forename: Kirsten
authors.initials: K
authors.lastname: Huck
authors.forename: Sonja
authors.initials: S
authors.lastname: Gudowius
authors.forename: Mosaad
authors.initials: M
authors.lastname: Megahed
authors.forename: Oliver
authors.initials: O
authors.lastname: Feyen
authors.forename: Bernd
authors.initials: B
authors.lastname: Hubner
authors.forename: Dominik T
authors.initials: DT
authors.lastname: Schneider
authors.forename: Burkhard
authors.initials: B
authors.lastname: Manfras
authors.forename: Ulrich
authors.initials: U
authors.lastname: Pannicke
authors.forename: Rein
authors.initials: R
authors.lastname: Willemze
authors.forename: Ruth
authors.initials: R
authors.lastname: Knüchel
authors.forename: Ulrich
authors.initials: U
authors.lastname: Göbel
authors.forename: Ansgar
authors.initials: A
authors.lastname: Schulz
authors.forename: Arndt
authors.initials: A
authors.lastname: Borkhardt
authors.forename: Wilhelm
authors.initials: W
authors.lastname: Friedrich
authors.forename: Klaus
authors.initials: K
authors.lastname: Schwarz
authors.forename: Tim
authors.initials: T
authors.lastname: Niehues
mesh_terms: D000361:Agammaglobulinemia / Q000235:genetics; D002644:Chickenpox / Q000150:complications; D002648:Child; D002675:Child, Preschool; D004268:DNA-Binding Proteins / Q000235:genetics*; D005145:Face / Q000473:pathology; D005260:Female; D016654:Genes, RAG-1; D006099:Granuloma / Q000235:genetics* / Q000276:immunology; D006579:Heterozygote; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications / Q000235:genetics*; D018655:Lymphocyte Count; D016393:Lymphoma, B-Cell / Q000209:etiology; D009154:Mutation; D010375:Pedigree; D012867:Skin / Q000473:pathology; D012871:Skin Diseases / Q000235:genetics* / Q000473:pathology
chemical_list: D004268:DNA-Binding Proteins; C064655:V(D)J recombination activating protein 2