TY - JOUR
T1 - 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
AU - Wiszniewski, Wojciech
AU - Fondaneche, Marie Claude
AU - Lambert, Nathalie
AU - Masternak, Krzysztof
AU - Picard, Capucine
AU - Notarangelo, Luigi
AU - Schwartz, Klaus
AU - Bal, Jerzy
AU - Reith, Walter
AU - Alcaide, Catherine
AU - De Saint Basile, Geneviève
AU - Fischer, Alain
AU - Lisowska-Grospierre, B.
N1 - Copyright:
Copyright 2018 Elsevier B.V., All rights reserved.
PY - 2000
Y1 - 2000
N2 - 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.
AB - 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.
KW - Bare lymphocyte syndrome
KW - Founder effect
KW - MHC class II deficiency
KW - MHC class II expression
KW - RFXANK gene mutations
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U2 - 10.1007/s002510050619
DO - 10.1007/s002510050619
M3 - Article
C2 - 10803838
AN - SCOPUS:0034072751
SN - 0093-7711
VL - 51
SP - 261
EP - 267
JO - Immunogenetics
JF - Immunogenetics
IS - 4-5
ER -