title: Clinical, immunological and genetic features in eleven Algerian patients with major histocompatibility complex class II expression deficiency.
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.
authors.affiliation: Immunology Department, Beni Messous Teaching Hospital, Algiers, Algeria.
authors.forename: Réda
authors.initials: R
authors.lastname: Djidjik
authors.affiliation: Immunology Department, Beni Messous Teaching Hospital, Algiers, Algeria.
authors.forename: Nesrine
authors.initials: N
authors.lastname: Messaoudani
authors.affiliation: Immunology Department, Beni Messous Teaching Hospital, Algiers, Algeria.
authors.forename: Azzedine
authors.initials: A
authors.lastname: Tahiat
authors.affiliation: Immunology Department, Central Hospital of the Army, Algiers, Algeria.
authors.forename: Yanis
authors.initials: Y
authors.lastname: Meddour
authors.affiliation: Immunology Department, Central Hospital of the Army, Algiers, Algeria.
authors.forename: Samia
authors.initials: S
authors.lastname: Chaib
authors.affiliation: Pediatrics Department A, Beni Messous Teaching Hospital, Algiers, Algeria.
authors.forename: Aziz
authors.initials: A
authors.lastname: Atek
authors.affiliation: Pediatrics Department A, Beni Messous Teaching Hospital, Algiers, Algeria.
authors.forename: Mohammed Elmokhtar
authors.initials: ME
authors.lastname: Khiari
authors.affiliation: Pediatrics Department, Bologhine Hospital, Algiers, Algeria.
authors.forename: Nafissa Keltoum
authors.initials: NK
authors.lastname: Benhalla
authors.affiliation: Pediatrics Department, Bologhine Hospital, Algiers, Algeria.
authors.forename: Leila
authors.initials: L
authors.lastname: Smati
authors.affiliation: Pediatrics Department B, Beni Messous Teaching Hospital, Algiers, Algeria.
authors.forename: Abdelatif
authors.initials: A
authors.lastname: Bensenouci
authors.affiliation: Pediatrics Department, Bologhine Hospital, Algiers, Algeria.
authors.forename: Mourad
authors.initials: M
authors.lastname: Baghriche
authors.affiliation: Immunology Department, Beni Messous Teaching Hospital, Algiers, Algeria.
authors.forename: Mohammed
authors.initials: M
authors.lastname: Ghaffor