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 Citations (Scopus)

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
StatePublished - 2000
Externally publishedYes

Fingerprint

Founder Effect
Major Histocompatibility Complex
Genes
Mutation
MHC Class II Genes
Regulator Genes
Haplotypes

Keywords

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

ASJC Scopus subject areas

  • Immunology
  • Genetics

Cite this

Wiszniewski, W., Fondaneche, M. C., Lambert, N., Masternak, K., Picard, C., Notarangelo, L., ... 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.

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

In: Immunogenetics, Vol. 51, No. 4-5, 2000, p. 261-267.

Research output: Contribution to journalArticle

Wiszniewski, W, Fondaneche, MC, 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, vol. 51, no. 4-5, pp. 261-267.
Wiszniewski, Wojciech ; Fondaneche, Marie Claude ; Lambert, Nathalie ; Masternak, Krzysztof ; Picard, Capucine ; Notarangelo, Luigi ; Schwartz, Klaus ; Bal, Jerzy ; Reith, Walter ; Alcaide, Catherine ; De Saint Basile, Geneviève ; Fischer, Alain ; Lisowska-Grospierre, B. / 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. In: Immunogenetics. 2000 ; Vol. 51, No. 4-5. pp. 261-267.
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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.",
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AU - Lambert, Nathalie

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