RAG mutations in human B cell-negative SCID.

doi:10.1126/science.274.5284.97

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Article

RAG mutations in human B cell-negative SCID.

Science (New York, N.Y.) - 4 Oct 1996

Schwarz K, Gauss G H, Ludwig L, Pannicke U, Li Z, Lindner D, Friedrich W, Seger R A, Hansen-Hagge T E, Desiderio S, Lieber M R, Bartram C R

Abstract excerpt

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 carr...

Topics

B-Lymphocytes
Cell Line
Consanguinity
DNA-Binding Proteins
Female
Genes, Immunoglobulin
Genes, Recessive
Homeodomain Proteins
Humans
Immunophenotyping
Male
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Nuclear Proteins

Polymorphism, Single-Stranded Conformational

Proteins

Receptors, Antigen, T-Cell

Recombination, Genetic

Sequence Deletion

Source

Open in PubMed

Identifiers

PMID: 8810255
DOI: 10.1126/science.274.5284.97

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8810255-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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