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
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U2 - 10.2332/allergolint.55.115
DO - 10.2332/allergolint.55.115
M3 - Review article
C2 - 17075247
AN - SCOPUS:33745644715
VL - 55
SP - 115
EP - 119
JO - Allergology International
JF - Allergology International
SN - 1323-8930
IS - 2
ER -