{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,2]],"date-time":"2026-01-02T07:44:16Z","timestamp":1767339856915},"reference-count":18,"publisher":"American Society of Hematology","issue":"5","content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2001,9,1]]},"abstract":"<jats:p>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\u2013herpes simplex virus\u2013antibodies. 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.<\/jats:p>","DOI":"10.1182\/blood.v98.5.1464","type":"journal-article","created":{"date-parts":[[2002,7,27]],"date-time":"2002-07-27T12:46:47Z","timestamp":1027774007000},"page":"1464-1468","update-policy":"http:\/\/dx.doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":15,"title":["Identification of anti\u2013herpes simplex virus antibody\u2013producing B cells in a patient with an atypical RAG1 immunodeficiency"],"prefix":"10.1182","volume":"98","author":[{"given":"Satoru","family":"Kumaki","sequence":"first","affiliation":[{"name":"From the Department of Pediatric Oncology, Institute of Development, Aging and Cancer, Tohoku University, Sendai, Japan; Department of Human Genome and Multifactorial Disease, Instituto di Tecnologie Biomediche Avanzate, Consiglio Nazionale delle Ricerche, Milano, Italy; Miyagi Red Cross Blood Center, Sendai, Japan; and Division of Transfusion, Tohoku University Hospital, Sendai, Japan."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Villa","sequence":"additional","affiliation":[{"name":"From the Department of Pediatric Oncology, Institute of Development, Aging and Cancer, Tohoku University, Sendai, Japan; Department of Human Genome and Multifactorial Disease, Instituto di Tecnologie Biomediche Avanzate, Consiglio Nazionale delle Ricerche, Milano, Italy; Miyagi Red Cross Blood Center, Sendai, Japan; and Division of Transfusion, Tohoku University Hospital, Sendai, Japan."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroshi","family":"Asada","sequence":"additional","affiliation":[{"name":"From the Department of Pediatric Oncology, Institute of Development, Aging and Cancer, Tohoku University, Sendai, Japan; Department of Human Genome and Multifactorial Disease, Instituto di Tecnologie Biomediche Avanzate, Consiglio Nazionale delle Ricerche, Milano, Italy; Miyagi Red Cross Blood Center, Sendai, Japan; and Division of Transfusion, Tohoku University Hospital, Sendai, Japan."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shin","family":"Kawai","sequence":"additional","affiliation":[{"name":"From the Department of Pediatric Oncology, Institute of Development, Aging and Cancer, Tohoku University, Sendai, Japan; Department of Human Genome and Multifactorial Disease, Instituto di Tecnologie Biomediche Avanzate, Consiglio Nazionale delle Ricerche, Milano, Italy; Miyagi Red Cross Blood Center, Sendai, Japan; and Division of Transfusion, Tohoku University Hospital, Sendai, Japan."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshiyuki","family":"Ohashi","sequence":"additional","affiliation":[{"name":"From the Department of Pediatric Oncology, Institute of Development, Aging and Cancer, Tohoku University, Sendai, Japan; Department of Human Genome and Multifactorial Disease, Instituto di Tecnologie Biomediche Avanzate, Consiglio Nazionale delle Ricerche, Milano, Italy; Miyagi Red Cross Blood Center, Sendai, Japan; and Division of Transfusion, Tohoku University Hospital, Sendai, Japan."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miyoko","family":"Takahashi","sequence":"additional","affiliation":[{"name":"From the Department of Pediatric Oncology, Institute of Development, Aging and Cancer, Tohoku University, Sendai, Japan; Department of Human Genome and Multifactorial Disease, Instituto di Tecnologie Biomediche Avanzate, Consiglio Nazionale delle Ricerche, Milano, Italy; Miyagi Red Cross Blood Center, Sendai, Japan; and Division of Transfusion, Tohoku University Hospital, Sendai, Japan."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ikuko","family":"Hakozaki","sequence":"additional","affiliation":[{"name":"From the Department of Pediatric Oncology, Institute of Development, Aging and Cancer, Tohoku University, Sendai, Japan; Department of Human Genome and Multifactorial Disease, Instituto di Tecnologie Biomediche Avanzate, Consiglio Nazionale delle Ricerche, Milano, Italy; Miyagi Red Cross Blood Center, Sendai, Japan; and Division of Transfusion, Tohoku University Hospital, Sendai, Japan."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Etsuko","family":"Nitanai","sequence":"additional","affiliation":[{"name":"From the Department of Pediatric Oncology, Institute of Development, Aging and Cancer, Tohoku University, Sendai, Japan; Department of Human Genome and Multifactorial Disease, Instituto di Tecnologie Biomediche Avanzate, Consiglio Nazionale delle Ricerche, Milano, Italy; Miyagi Red Cross Blood Center, Sendai, Japan; and Division of Transfusion, Tohoku University Hospital, Sendai, Japan."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masayoshi","family":"Minegishi","sequence":"additional","affiliation":[{"name":"From the Department of Pediatric Oncology, Institute of Development, Aging and Cancer, Tohoku University, Sendai, Japan; Department of Human Genome and Multifactorial Disease, Instituto di Tecnologie Biomediche Avanzate, Consiglio Nazionale delle Ricerche, Milano, Italy; Miyagi Red Cross Blood Center, Sendai, Japan; and Division of Transfusion, Tohoku University Hospital, Sendai, Japan."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shigeru","family":"Tsuchiya","sequence":"additional","affiliation":[{"name":"From the Department of Pediatric Oncology, Institute of Development, Aging and Cancer, Tohoku University, Sendai, Japan; Department of Human Genome and Multifactorial Disease, Instituto di 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