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Lookup NU author(s): Dr Mario Abinun
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Severe combined immunodeficiency (SCID) comprises a heterogeneous group of primary immunodeficiencies, a proportion of which are due to mutations in either of the 2 recombination activating genes (RAG)-1 and -2, which mediate the process of V(D)J recombination leading to the assembly of antigen receptor genes. It is reported here that the clinical and immunologic phenotypes of patients bearing mutations in RAGs are more diverse than previously thought and that this variability is related, in part, to the specific type of RAG mutation. By analyzing 44 such patients from 41 families, the following conclusions were reached: (1) null mutations on both alleles lead to the T-B-SCID phenotype; (2) patients manifesting classic Omenn syndrome (OS) have missense mutations on at least one allele and maintain partial V(D)J recombination activity, which accounts for the generation of residual, oligoclonal lymphocytes; (3) in a third group of patients, findings were only partially compatible with OS, and these patients, who also carried at least one missense mutation, may be considered to have atypical SCID/OS; (4) patients with engraftment of maternal T cells as a complication of a transplacental transfusion represented a fourth group, and these patients, who often presented with a clinical phenotype mimicking OS, may be observed regardless of the type of RAG gene mutation. Analysis of the HAG genes by direct sequencing is an effective way to provide accurate diagnosis of RAG-deficient as opposed to RAG-independent V(D)J recombination defects, a distinction that cannot be made based on clinical and immunologic phenotype alone. (C) 2001 by The American Society of Hematology.
Author(s): Abinun M; Villa A; Sobacchi C; Notarangelo LD; Bozzi F; Abrahamsen TG; Arkwright PD; Baniyash M; Brooks EG; Conley ME; Cortes P; Duse M; Fasth A; Filipovich AM; Infante AJ; Jones A; Mazzolari E; Muller SM; Pasic S; Rechavi G; Sacco MG; Santagata S; Schroeder ML; Seger R; Strina D; Ugazio A; Valiaho J; Vihinen M; Vogler LB; Ochs H; Vezzoni P; Friedrich W; Schwarz K
Publication type: Article
Publication status: Published
Journal: Blood
Year: 2001
Volume: 97
Issue: 1
Pages: 81-88
ISSN (print): 0006-4971
ISSN (electronic): 1528-0020
Publisher: American Society of Hematology
URL: http://dx.doi.org/10.1182/blood.V97.1.81
DOI: 10.1182/blood.V97.1.81
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