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 journalArticle

21 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

Fingerprint

Severe Combined Immunodeficiency
Japan
Phenotype
Mutation
RAG-1 Genes
T-Lymphocytes
Mosaicism
Alopecia
T-Cell Antigen Receptor
B-Lymphocytes
Cell Count

Keywords

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

ASJC Scopus subject areas

  • Immunology and Allergy

Cite this

Omenn syndrome - Review of several phenotypes of Omenn syndrome and RAG1/RAG2 mutations in Japan. / Kato, Masahiko; Kimura, Hirokazu; Seki, Mitsuru; Shimada, Akira; Hayashi, Yasuhide; Morio, Tomohiro; Kumaki, Satoru; Ishida, Yasushi; Kamachi, Yoshiro; Yachie, Akihiro.

In: Allergology International, Vol. 55, No. 2, 06.2006, p. 115-119.

Research output: Contribution to journalArticle

Kato, M, Kimura, H, Seki, M, Shimada, A, Hayashi, Y, Morio, T, Kumaki, S, Ishida, Y, Kamachi, Y & Yachie, A 2006, 'Omenn syndrome - Review of several phenotypes of Omenn syndrome and RAG1/RAG2 mutations in Japan', Allergology International, vol. 55, no. 2, pp. 115-119. https://doi.org/10.2332/allergolint.55.115
Kato, Masahiko ; Kimura, Hirokazu ; Seki, Mitsuru ; Shimada, Akira ; Hayashi, Yasuhide ; Morio, Tomohiro ; Kumaki, Satoru ; Ishida, Yasushi ; Kamachi, Yoshiro ; Yachie, Akihiro. / Omenn syndrome - Review of several phenotypes of Omenn syndrome and RAG1/RAG2 mutations in Japan. In: Allergology International. 2006 ; Vol. 55, No. 2. pp. 115-119.
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AU - Kato, Masahiko

AU - Kimura, Hirokazu

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AU - Hayashi, Yasuhide

AU - Morio, Tomohiro

AU - Kumaki, Satoru

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