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01-09-2010 | Original Paper

The 752delG26 mutation in the RFXANK gene associated with major histocompatibility complex class II deficiency: evidence for a founder effect in the Moroccan population

Authors: Hamid Naamane, Ouafaa El Maataoui, Fatima Ailal, Abdelhamid Barakat, Siham Bennani, Jilali Najib, Mohammed Hassar, Rachid Saile, Ahmed Aziz Bousfiha

Published in: European Journal of Pediatrics | Issue 9/2010

Abstract

Major histocompatibility complex class II plays a key role in the immune response, by presenting processed antigens to CD4+ lymphocytes. Major histocompatibility complex class II expression is controlled at the transcriptional level by at least four trans-acting genes: CIITA, RFXANK, RFX5 and RFXAP. Defects in these regulatory genes cause MHC class II immunodeficiency, which is frequent in North Africa. The aim of this study was to describe the immunological and molecular characteristics of ten unrelated Moroccan patients with MHC class II deficiency. Immunological examinations revealed a lack of expression of MHC class II molecules at the surface of peripheral blood mononuclear cells, low CD4+ T lymphocyte counts and variable serum immunoglobulin (IgG, IgM and IgA) levels. In addition, no MHC class II (HLA DR) expression was observed on lymphoblasts. The molecular analysis identified the same homozygous 752delG26 mutation in the RFXANK genes of all patients. This finding confirms the association between the high frequency of the combined immunodeficiency and the defect in MHC class II expression and provides strong evidence for a founder effect of the 752delG26 mutation in the North African population. These findings should facilitate the establishment of molecular diagnosis and improve genetic counselling for affected Moroccan families.

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Title: The 752delG26 mutation in the RFXANK gene associated with major histocompatibility complex class II deficiency: evidence for a founder effect in the Moroccan population
Authors: Hamid Naamane
Ouafaa El Maataoui
Fatima Ailal
Abdelhamid Barakat
Siham Bennani
Jilali Najib
Mohammed Hassar
Rachid Saile
Ahmed Aziz Bousfiha
Publication date: 01-09-2010
Publisher: Springer-Verlag
Published in: European Journal of Pediatrics / Issue 9/2010
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI: https://doi.org/10.1007/s00431-010-1179-6

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The 752delG26 mutation in the RFXANK gene associated with major histocompatibility complex class II deficiency: evidence for a founder effect in the Moroccan population

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

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