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Blood, 15 September 2005, Vol. 106, No. 6, pp. 2099-2101.
Prepublished online as a Blood First Edition Paper on April 21, 2005; DOI 10.1182/blood-2005-03-0936.
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IMMUNOBIOLOGY
Brief report
Oligoclonal expansion of T lymphocytes with multiple second-site mutations leads to Omenn syndrome in a patient with RAG1-deficient severe combined immunodeficiency
Taizo Wada,
Tomoko Toma,
Hiroyuki Okamoto,
Yoshihito Kasahara,
Shoichi Koizumi,
Kazunaga Agematsu,
Hirokazu Kimura,
Akira Shimada,
Yasuhide Hayashi,
Masahiko Kato, and
Akihiro Yachie
From the Department of Pediatrics, Graduate School of Medical Science and School of Medicine, Kanazawa University, Japan; Department of Pediatrics, Graduate School of Medicine, Shinshu University, Matsumoto, Japan; Gunma Prefectural Institute of Public Health and Environmental Sciences; Gunma Children's Medical Center, Maebnshi, Japan; and Department of Laboratory Sciences, School of Health Sciences, Faculty of Medicine, Kanazawa University, Japan.
Omenn syndrome (OS) is a rare primary immunodeficiency characterized by the presence of activated/oligoclonal T cells, eosinophilia, and the absence of circulating B cells. OS patients carry leaky mutations of recombination activating genes (RAG1 or RAG2) resulting in partial V(D)J recombination activity, whereas null mutations cause severe combined immunodeficiency with absence of mature T and B cells (T-B- SCID). Here we describe somatic mosaicism due to multiple second-site mutations in a patient with RAG1 deficiency. We found that he is homozygous for a single base deletion in the RAG1 gene, which results in frameshift and likely abrogates the protein function. However, the patient showed typical OS features. Molecular analysis revealed that several second-site mutations, all of which restored the RAG1 reading frame and resulted in missense mutations, were demonstrated in his T cells. These findings suggest that his revertant T-cell mosaicism is responsible for OS phenotype switched from T-B- SCID. (Blood. 2005; 106:2099-2101)
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