RAG mutations in human B cell-negative SCID
K Schwarz, GH Gauss, L Ludwig, U Pannicke, Z Li… - Science, 1996 - science.org
K Schwarz, GH Gauss, L Ludwig, U Pannicke, Z Li, D Lindner, W Friedrich, RA Seger…
Science, 1996•science.orgPatients 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 …
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 …
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.
AAAS