Omenn Syndrome—Review of Several Phenotypes of Omenn Syndrome and RAG1/RAG2 Mutations in Japan
Authors:
- Hirokazu KimuraHKHirokazu Kimura
- Mitsuru SekiMSMitsuru Seki
- Akira ShimadaASAkira Shimada
- Yasuhide HayashiYHYasuhide Hayashi
- Tomohiro MorioTMTomohiro Morio
- Satoru KumakiSKSatoru Kumaki
- Yasushi IshidaYIYasushi Ishida
- Yoshiro KamachiYKYoshiro Kamachi
- Akihiro YachieAYAkihiro Yachie
Open Access
- 1 January 2006
- journal article
- review article
- Published by Japanese Society of Allergology in Allergology International
- Vol. 55 (2) , 115-119
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.Keywords
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