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 language | English |
|---|---|
| Pages (from-to) | 115-119 |
| Number of pages | 5 |
| Journal | Allergology International |
| Volume | 55 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - Jun 2006 |
| Externally published | Yes |
Keywords
- Immunodeficiency
- Japan
- Omenn syndrome
- RAG1 or RAG2 mutation
ASJC Scopus subject areas
- Immunology and Allergy
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Cite this
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, 55(2), 115-119. https://doi.org/10.2332/allergolint.55.115