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

Wojciech Wiszniewski, Marie Claude Fondaneche, Nathalie Lambert, Krzysztof Masternak, Capucine Picard, Luigi Notarangelo, Klaus Schwartz, Jerzy Bal, Walter Reith, Catherine Alcaide, Geneviève De Saint Basile, Alain Fischer, B. Lisowska-Grospierre

Research output: Contribution to journalArticle

27 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)261-267
Number of pages7
JournalImmunogenetics
Volume51
Issue number4-5
DOIs
StatePublished - Jan 1 2000

Keywords

  • Bare lymphocyte syndrome
  • Founder effect
  • MHC class II deficiency
  • MHC class II expression
  • RFXANK gene mutations

ASJC Scopus subject areas

  • Immunology
  • Genetics

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    Wiszniewski, W., Fondaneche, M. C., Lambert, N., Masternak, K., Picard, C., Notarangelo, L., Schwartz, K., Bal, J., Reith, W., Alcaide, C., De Saint Basile, G., Fischer, A., & Lisowska-Grospierre, B. (2000). 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. Immunogenetics, 51(4-5), 261-267. https://doi.org/10.1007/s002510050619