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 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.
Schwarz
K
K
Section of Molecular Biology, University of Ulm, D-89070 Ulm, Germany.
Gauss
G H
GH
Ludwig
L
L
Pannicke
U
U
Li
Z
Z
Lindner
D
D
Friedrich
W
W
Seger
R A
RA
Hansen-Hagge
T E
TE
Desiderio
S
S
Lieber
M R
MR
Bartram
C R
CR
D001402:B-Lymphocytes / Q000276:immunology; D002460:Cell Line; D003241:Consanguinity; D004268:DNA-Binding Proteins; D005260:Female; D005803:Genes, Immunoglobulin; D005808:Genes, Recessive; D018398:Homeodomain Proteins; D006801:Humans; D016130:Immunophenotyping; D008297:Male; D009154:Mutation; D009687:Nuclear Proteins; D018807:Polymorphism, Single-Stranded Conformational; D011506:Proteins / Q000235:genetics*; D011948:Receptors, Antigen, T-Cell / Q000235:genetics; D011995:Recombination, Genetic; D017384:Sequence Deletion; D016511:Severe Combined Immunodeficiency / Q000235:genetics* / Q000276:immunology; D014162:Transfection
D004268:DNA-Binding Proteins; D018398:Homeodomain Proteins; D009687:Nuclear Proteins; D011506:Proteins; C499311:RAG2 protein, human; D011948:Receptors, Antigen, T-Cell; C064655:V(D)J recombination activating protein 2; C064658:RAG-1 protein