title: Omenn syndrome--review of several phenotypes of Omenn syndrome and RAG1/RAG2 mutations in Japan.
abstract: Omenn syndrome (OS) is a form of severe combined immunodeficiency (SCID) characterized by erythrodermia, hepatosplenomegaly, lymphadenopathy, and alopecia. In patients with OS, B cells are mostly absent, T-cell counts are normal to elevated, and T cells are frequently activated and express a restricted T-cell receptor (TCR) repertoire. Thus far, inherited hypomorphic mutations of the recombination activating genes either 1 or 2 (RAG1/2) have been detected in most OS patients. We have recently experienced a rare case of OS showing the revertant mosaicism due to multiple second-site mutations leading to typical OS clinical features with RAG1-deficient SCID. In this review, we will focus on the variation of several phenotypes of OS.
authors.affiliation: Department of Allergy and Immunology, Gunma Children's Medical Center, Hokkitsu, Gunma, Japan. mkato@shibukawa, gcmc.pref.gunma.jp
authors.forename: Masahiko
authors.initials: M
authors.lastname: Kato
authors.forename: Hirokazu
authors.initials: H
authors.lastname: Kimura
authors.forename: Mitsuru
authors.initials: M
authors.lastname: Seki
authors.forename: Akira
authors.initials: A
authors.lastname: Shimada
authors.forename: Yasuhide
authors.initials: Y
authors.lastname: Hayashi
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Morio
authors.forename: Satoru
authors.initials: S
authors.lastname: Kumaki
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Ishida
authors.forename: Yoshiro
authors.initials: Y
authors.lastname: Kamachi
authors.forename: Akihiro
authors.initials: A
authors.lastname: Yachie
mesh_terms: D004268:DNA-Binding Proteins / Q000235:genetics*; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D014644:Genetic Variation; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007564:Japan; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D010641:Phenotype; D016511:Severe Combined Immunodeficiency / Q000235:genetics* / Q000503:physiopathology; D044465:White People / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; D018398:Homeodomain Proteins; D009687:Nuclear Proteins; C499311:RAG2 protein, human; C064658:RAG-1 protein