Skip to content
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
immunology and microbiology
Clinical, immunological and genetic features in eleven Algerian patients with major histocompatibility complex class II expression deficiency
Allergy, Asthma and Clinical Immunology, Volume 8, No. 1, Article 14, Year 2012
Notification
URL copied to clipboard!
Description
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. © 2012 Djidjik et al.; licensee BioMed Central Ltd.
Authors & Co-Authors
Djidjik, Réda
Algeria, Algiers
Centre Hospitalier et Universitaire de Béni-messous, Algiers
Messaoudani, Nesrine
Algeria, Algiers
Centre Hospitalier et Universitaire de Béni-messous, Algiers
Tahiat, Azzeddine
Algeria, Algiers
Centre Hospitalier et Universitaire de Béni-messous, Algiers
Meddour, Yanis
Algeria, Kouba
Hôpital Central de L'armée Mohamed Seghir Nekkache
Chaib, Samia
Algeria, Kouba
Hôpital Central de L'armée Mohamed Seghir Nekkache
Atek, A.
Algeria, Algiers
Centre Hospitalier et Universitaire de Béni-messous, Algiers
Khiari, Mohammed E.
Algeria, Algiers
Centre Hospitalier et Universitaire de Béni-messous, Algiers
Benhalla, Nafissa K.
Algeria, Algiers
Hôpital de Bologhine
Smati, Leila
Algeria, Algiers
Hôpital de Bologhine
Bensenouci, Abdellatif
Algeria, Algiers
Centre Hospitalier et Universitaire de Béni-messous, Algiers
Baghriche, Mourad
Algeria, Algiers
Hôpital de Bologhine
Ghaffor, M.
Algeria, Algiers
Centre Hospitalier et Universitaire de Béni-messous, Algiers
Statistics
Citations: 12
Authors: 12
Affiliations: 3
Identifiers
Doi:
10.1186/1710-1492-8-14
ISSN:
17101484
e-ISSN:
17101492
Research Areas
Cancer
Genetics And Genomics
Infectious Diseases
Study Design
Cross Sectional Study
Study Locations
Multi-countries