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- Title
Founder effect for a 26-bp deletion in the RFXANK gene in North African major histocompatibility complex class II-deficient patients belonging to complementation group B.
- Authors
Wiszniewski, W.; Fondaneche, M. -C.; Lambert, N.; Masternak, K.; Picard, C.; Notarangelo, L.; Schwarz, K.; Bal, J.; Reith, W.; Alcaide, C.; de Saint Basile, G.; Fischer, A.; Lisowska-Grospierre, B.
- Abstract
Expression of major histocompatibility complex (MHC) class II genes is controlled at the transcriptional level by at least four trans-acting genes, CIITA, RFXANK, RFX5, and RFXAP. Defects in these regulatory genes result in the absence of MHC class II molecule expression and, thereby, cause a combined immunodeficiency. MHC class II deficiency is inherited as an autosomal recessive trait. Since the first description of the disease, about 70 patients from 50 families have been reported. Forty-three of these families have been classified into four complementation groups: A, B, C, and D. In the largest group, B, the majority of patients are of North African origin. In two of these patients, the same mutation in the RFXANK gene (752delG-25) was identified. We performed a mutation analysis in 20 additional patients belonging to complementation group B and detected the 752delG-25 mutation in 17. All of these patients are of North African origin. A founder effect for this mutation was documented, since all tested patients, except one, display a common haplotype spanning the RFXANK locus.
- Subjects
MAJOR histocompatibility complex; DEFICIENCY diseases; GENE expression; IMMUNODEFICIENCY; GENETIC mutation; GENES
- Publication
Immunogenetics, 2000, Vol 51, Issue 4/5, p261
- ISSN
0093-7711
- Publication type
Article
- DOI
10.1007/s002510050619