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Blood, 1 September 2008, Vol. 112, No. 5, pp. 1872-1875. Prepublished online as a Blood First Edition Paper on June 16, 2008; DOI 10.1182/blood-2008-04-149708. This Article Full Text Full Text (PDF) All Versions of this Article: blood-2008-04-149708v1 112/5/1872    most recent Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Wada, T. Articles by Yachie, A. Search for Related Content PubMed PubMed Citation Articles by Wada, T. Articles by Yachie, A. Related Collections Immunobiology Brief Reports Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  IMMUNOBIOLOGY Brief Report Detection of T lymphocytes with a second-site mutation in skin lesions of atypical X-linked severe combined immunodeficiency mimicking Omenn syndrome Taizo Wada1, Masahiro Yasui2, Tomoko Toma1, Yuko Nakayama1, Mika Nishida1, Masaki Shimizu1, Michiko Okajima1, Yoshihito Kasahara1, Shoichi Koizumi1, Masami Inoue2, Keisei Kawa2, and Akihiro Yachie1 1 Department of Pediatrics, Graduate School of Medical Science, Kanazawa University, Kanazawa; and 2 Department of Hematology/Oncology, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan X-linked severe combined immunodeficiency (XSCID) is caused by mutations of the common gamma chain (c) and usually characterized by the absence of T and natural killer (NK) cells. Here, we report an atypical case of XSCID presenting with autologous T and NK cells and Omenn syndrome-like manifestations. The patient carried a splice-site mutation (IVS1+5G>A) that caused most of the mRNA to be incorrectly spliced but produced normally spliced transcript in lesser amount, leading to residual c expression and development of T and NK cells. The skin biopsy specimen showed massive infiltration of revertant T cells. Those T cells were found to have a second-site mutation and result in complete restoration of correct splicing. These findings suggest that the clinical spectrum of XSCID is quite broad and includes atypical cases mimicking Omenn syndrome, and highlight the importance of revertant mosaicism as a possible cause for variable phenotypic expression. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this?

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