RAG Mutations in Human B Cell-Negative SCID

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 f...

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Bibliographic Details
Published in:Science (American Association for the Advancement of Science) 1996-10, Vol.274 (5284), p.97-99
Main Authors: Schwarz, Klaus, Gauss, George H., Ludwig, Leopold, Pannicke, Ulrich, Li, Zhong, Lindner, Doris, Friedrich, Wilhelm, Seger, Reinhard A., Hansen-Hagge, Thomas E., Desiderio, Stephen, Lieber, Michael R., Bartram, Claus R.
Format: Article
Language:English
Subjects:
Alleles
Antibodies
B cells
B lymphocytes
B-Lymphocytes - immunology
Blood
Cell Line
Coding
Consanguinity
Disease
DNA-Binding Proteins
Etiology
Female
Genes, Immunoglobulin
Genes, Recessive
Genetic aspects
Genetic mutation
Genetics
Grants
Homeodomain Proteins
Humans
Immunity (Disease)
Immunoblotting
Immunodeficiency
Immunophenotyping
Male
Mice
Migration Patterns
Molecular biology
Mutation
Nuclear Proteins
Patients
Polymorphism, Single-Stranded Conformational
Proteins - genetics
Receptors, Antigen, T-Cell - genetics
Recombination, Genetic
Sequence Deletion
Severe combined immunodeficiency
Severe Combined Immunodeficiency - genetics
Severe Combined Immunodeficiency - immunology
T lymphocytes
Transfection
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Description
Summary: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.
ISSN:0036-8075
1095-9203
DOI:10.1126/science.274.5284.97