Identification of anti-herpes simplex virus antibody-producing B cells in a patient with an atypical RAG1 immunodeficiency

Satoru Kumaki, Anna Villa, Hiroshi Asada, Shin Kawai, Yoshiyuki Ohashi, Miyoko Takahashi, Ikuko Hakozaki, Etsuko Nitanai, Masayoshi Minegishi, Shigeru Tsuchiya

Research output: Contribution to journalArticlepeer-review


Mutations of the RAG1 or RAG2 protein that eliminate their recombination activity result in T-B-severe combined immunodeficiency (SCID), whereas mutations retaining partial recombination activity lead to Omenn syndrome, a peculiar SCID characterized by increased host T cells and absence of circulating B cells. The prognosis of this disease is fatal, unless hematopoietic stem cell transplantation is performed. This study reports a case of atypical SCID, carrying RAG1 mutations. The patient survived for 6 years without hematopoietic stem cell transplantation. The missense mutation, tested by in vivo recombination assay, revealed residual recombination activity. By the age of 5 years, the patient developed host B cells, but not T cells, possibly due to engrafted maternal T cells. In addition, the host B cells were able to produce antibodies, including anti-herpes simplex virus-antibodies. The fact that host B cells could produce antibodies in this patient could explain not only the mild phenotype observed but also, at least in part, how patients with Omenn syndrome produce immunoglobulin E and sometimes immunoglobulin M, as the same missense mutation of RAG1 gene has been reported in a patient with Omenn syndrome.

Original languageEnglish
Pages (from-to)1464-1468
Number of pages5
Issue number5
Publication statusPublished - Sept 1 2001

ASJC Scopus subject areas

  • Hematology


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