Omenn syndrome - Review of several phenotypes of Omenn syndrome and RAG1/RAG2 mutations in Japan

Masahiko Kato, Hirokazu Kimura, Mitsuru Seki, Akira Shimada, Yasuhide Hayashi, Tomohiro Morio, Satoru Kumaki, Yasushi Ishida, Yoshiro Kamachi, Akihiro Yachie

Research output: Contribution to journalReview articlepeer-review

25 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)115-119
Number of pages5
JournalAllergology International
Volume55
Issue number2
DOIs
Publication statusPublished - Jun 2006
Externally publishedYes

Keywords

  • Immunodeficiency
  • Japan
  • Omenn syndrome
  • RAG1 or RAG2 mutation

ASJC Scopus subject areas

  • Immunology and Allergy

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