Immunogenetics

, Volume 51, Issue 4–5, pp 261–267 | Cite as

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

  • W. Wiszniewski
  • M. -C. Fondaneche
  • N. Lambert
  • K. Masternak
  • C. Picard
  • L. Notarangelo
  • K. Schwarz
  • J. Bal
  • W. Reith
  • C. Alcaide
  • G. de Saint Basile
  • A. Fischer
  • B. Lisowska-Grospierre

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.

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

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Copyright information

© Springer-Verlag Berlin Heidelberg 2000

Authors and Affiliations

  • W. Wiszniewski
    • 1
  • M. -C. Fondaneche
    • 1
  • N. Lambert
    • 1
  • K. Masternak
    • 2
  • C. Picard
    • 1
  • L. Notarangelo
    • 3
  • K. Schwarz
    • 4
  • J. Bal
    • 5
  • W. Reith
    • 2
  • C. Alcaide
    • 6
  • G. de Saint Basile
    • 1
  • A. Fischer
    • 1
  • B. Lisowska-Grospierre
    • 1
  1. 1.INSERM U 429, Institut National de la Santé et de la Recherche Médicale, Hopital des Enfants Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, France e-mail: grospier@necker.fr Tel.: +33-1-44495074 Fax: +33-1-42730640FR
  2. 2.Department of Genetics and Microbiology, University of Geneva Medical School, Geneva, SwitzerlandCH
  3. 3.Department of Pediatrics, University of Brescia, ItalyIT
  4. 4.Transfusion Medicine, University of Ulm, GermanyDE
  5. 5.Department of Medical Genetics, National Research Institute of Mother and Child, Warsaw, PolandPL
  6. 6.INSERM U396, Institut Biomedical des Cordeliers, Paris, FranceFR

Personalised recommendations