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Clinical, immunological and genetic features in eleven Algerian patients with major histocompatibility complex class II expression deficiency

Authors :
Djidjik Réda
Messaoudani Nesrine
Tahiat Azzedine
Meddour Yanis
Chaib Samia
Atek Aziz
Khiari Mohammed
Benhalla Nafissa
Smati Leila
Bensenouci Abdelatif
Baghriche Mourad
Ghaffor Mohammed
Source :
Allergy, Asthma & Clinical Immunology, Vol 8, Iss 1, p 14 (2012)
Publication Year :
2012
Publisher :
BMC, 2012.

Abstract

Abstract Presenting processed antigens to CD4+ lymphocytes during the immune response involves major histocompatibility complex class II molecules. MHC class II genes transcription is regulated by four transcription factors: CIITA, RFXANK, RFX5 and RFXAP. Defects in these factors result in major histocompatibility complex class II expression deficiency, a primary combined immunodeficiency frequent in North Africa. Autosomal recessive mutations in the RFXANK gene have been reported as being the principal defect found in North African patients with this disorder. In this paper, we describe clinical, immunological and genetic features of 11 unrelated Algerian patients whose monocytes display a total absence of MHC class II molecules. They shared mainly the same clinical picture which included protracted diarrhoea and respiratory tract recurrent infections. Genetic analysis revealed that 9 of the 11 patients had the same RFXANK founder mutation, a 26 bp deletion (named I5E6-25_I5E6+1, also known as 752delG26). Immunological and genetic findings in our series may facilitate genetic counselling implementation for Algerian consanguineous families. Further studies need to be conducted to determine 752delG26 heterozygous mutation frequency in Algerian population.

Details

Language :
English
ISSN :
17101492 and 17101484
Volume :
8
Issue :
1
Database :
Directory of Open Access Journals
Journal :
Allergy, Asthma & Clinical Immunology
Publication Type :
Academic Journal
Accession number :
edsdoj.1822ece33dc24e6b88e7ea80e731fb97
Document Type :
article
Full Text :
https://doi.org/10.1186/1710-1492-8-14