Abstract
Patients with human severe combined immunodeficiency (SCID) can be divided into those with B lymphocytes (B+ SCID) and those without (B- SCID). Although several genetic causes are known for B+ SCID, the etiology of B- SCID has not been defined. Six of 14 B- SCID patients tested were found to carry a mutation of the recombinase activating gene 1 (RAG-1), RAG-2, or both. This mutation resulted in a functional inability to form antigen receptors through genetic recombination and links a defect in one of the site-specific recombination systems to a human disease.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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B-Lymphocytes / immunology
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Cell Line
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Consanguinity
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DNA-Binding Proteins*
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Female
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Genes, Immunoglobulin
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Genes, Recessive
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Homeodomain Proteins*
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Humans
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Immunophenotyping
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Male
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Mutation
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Nuclear Proteins
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Polymorphism, Single-Stranded Conformational
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Proteins / genetics*
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Receptors, Antigen, T-Cell / genetics
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Recombination, Genetic
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Sequence Deletion
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Severe Combined Immunodeficiency / genetics*
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Severe Combined Immunodeficiency / immunology
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Transfection
Substances
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DNA-Binding Proteins
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Homeodomain Proteins
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Nuclear Proteins
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Proteins
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RAG2 protein, human
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Receptors, Antigen, T-Cell
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V(D)J recombination activating protein 2
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RAG-1 protein