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Blood, 1 September 2001, Vol. 98, No. 5, pp. 1464-1468
IMMUNOBIOLOGY
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, and
Shigeru Tsuchiya
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.
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.
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M. Ege, Y. Ma, B. Manfras, K. Kalwak, H. Lu, M. R. Lieber, K. Schwarz, and U. Pannicke
Omenn syndrome due to ARTEMIS mutations
Blood,
June 1, 2005;
105(11):
4179 - 4186.
[Abstract]
[Full Text]
[PDF]
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