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 |
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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 journal › Article
}
TY - JOUR
T1 - Omenn syndrome - Review of several phenotypes of Omenn syndrome and RAG1/RAG2 mutations in Japan
AU - Kato, Masahiko
AU - Kimura, Hirokazu
AU - Seki, Mitsuru
AU - Shimada, Akira
AU - Hayashi, Yasuhide
AU - Morio, Tomohiro
AU - Kumaki, Satoru
AU - Ishida, Yasushi
AU - Kamachi, Yoshiro
AU - Yachie, Akihiro
PY - 2006/6
Y1 - 2006/6
N2 - 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.
AB - 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.
KW - Immunodeficiency
KW - Japan
KW - Omenn syndrome
KW - RAG1 or RAG2 mutation
UR - http://www.scopus.com/inward/record.url?scp=33745644715&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=33745644715&partnerID=8YFLogxK
U2 - 10.2332/allergolint.55.115
DO - 10.2332/allergolint.55.115
M3 - Article
VL - 55
SP - 115
EP - 119
JO - Allergology International
JF - Allergology International
SN - 1323-8930
IS - 2
ER -