Phenotype: MHC class II deficiency, complementation group B


OMIM: 209920
Inheritance: Autosomal recessive
Classification: Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

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RFXANK || c.338-25_338del26 (752delG26)

Gene/Locus:    RFXANK
Dna Change:    c.338-25_338del26 (752delG26)
Protein Change:   
Mutation Type:    Deletion
Mutation Effect:    Frameshift
Location:    exon 6
Transcript:    NM_003721.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
AlgeriaNANA10 patientsNAWiszniewski W et al., 2000Wiszniewski W, Fondaneche MC, Lambert N, Masternak K, Picard C, Notarangelo L, Schwartz K, Bal J, Reith W, Alcaide C, de Saint Basile G, Fischer A, Lisowska-Grospierre B, . 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.. Immunogenetics. 2000; 51(4):261-7
AlgeriaNANA19 patients2250 years agoOuederni M et al., 2011Ouederni M, Vincent QB, Frange P, Touzot F, Scerra S, Bejaoui M, Bousfiha A, Levy Y, Lisowska-Grospierre B, Canioni D, Bruneau J, Debré M, Blanche S, Abel L, Casanova JL, Fischer A, Picard C, . Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patients.. Blood. 2011; 118(19):5108-18
AlgeriaNANA9 patients/11 unrelated patientsNADjidjik R et al., 2012Djidjik R, Messaoudani N, Tahiat A, Meddour Y, Chaib S, Atek A, Khiari ME, Benhalla NK, Smati L, Bensenouci A, Baghriche M, Ghaffor M, . Clinical, immunological and genetic features in eleven Algerian patients with major histocompatibility complex class II expression deficiency.. Allergy Asthma Clin Immunol. 2012; 8(1):14
MoroccoNANA1 patientNAWiszniewski W et al., 2000Wiszniewski W, Fondaneche MC, Lambert N, Masternak K, Picard C, Notarangelo L, Schwartz K, Bal J, Reith W, Alcaide C, de Saint Basile G, Fischer A, Lisowska-Grospierre B, . 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.. Immunogenetics. 2000; 51(4):261-7
MoroccoNANA2 patients2250 years agoOuederni M et al., 2011Ouederni M, Vincent QB, Frange P, Touzot F, Scerra S, Bejaoui M, Bousfiha A, Levy Y, Lisowska-Grospierre B, Canioni D, Bruneau J, Debré M, Blanche S, Abel L, Casanova JL, Fischer A, Picard C, . Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patients.. Blood. 2011; 118(19):5108-18
MoroccoNANA10 unrelated patientsNANaamane H et al., 2010Naamane H, El Maataoui O, Ailal F, Barakat A, Bennani S, Najib J, Hassar M, Saile R, Bousfiha AA, . The 752delG26 mutation in the RFXANK gene associated with major histocompatibility complex class II deficiency: evidence for a founder effect in the Moroccan population.. Eur. J. Pediatr.. 2010; 169(9):1069-74
TunisiaNANA3 patientsNAWiszniewski W et al., 2000Wiszniewski W, Fondaneche MC, Lambert N, Masternak K, Picard C, Notarangelo L, Schwartz K, Bal J, Reith W, Alcaide C, de Saint Basile G, Fischer A, Lisowska-Grospierre B, . 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.. Immunogenetics. 2000; 51(4):261-7
TunisiaNANA3 patients2250 years agoOuederni M et al., 2011Ouederni M, Vincent QB, Frange P, Touzot F, Scerra S, Bejaoui M, Bousfiha A, Levy Y, Lisowska-Grospierre B, Canioni D, Bruneau J, Debré M, Blanche S, Abel L, Casanova JL, Fischer A, Picard C, . Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patients.. Blood. 2011; 118(19):5108-18
TunisiaNANA25 patients/34 patients from 28 kindredNABen-Mustapha I et al., 2013Ben-Mustapha I, Ben-Farhat K, Guirat-Dhouib N, Dhemaied E, Larguèche B, Ben-Ali M, Chemli J, Bouguila J, Ben-Mansour L, Mellouli F, Khemiri M, Béjaoui M, Barbouche MR, . Clinical, immunological and genetic findings of a large tunisian series of major histocompatibility complex class II deficiency patients.. J. Clin. Immunol.. 2013; 33(4):865-70

References

Ben-Mustapha I, Ben-Farhat K, Guirat-Dhouib N, Dhemaied E, Larguèche B, Ben-Ali M, Chemli J, Bouguila J, Ben-Mansour L, Mellouli F, Khemiri M, Béjaoui M, Barbouche MR, Clinical, immunological and genetic findings of a large tunisian series of major histocompatibility complex class II deficiency patients.J. Clin. Immunol.. 2013; 33(4):865-70

Djidjik R, Messaoudani N, Tahiat A, Meddour Y, Chaib S, Atek A, Khiari ME, Benhalla NK, Smati L, Bensenouci A, Baghriche M, Ghaffor M, Clinical, immunological and genetic features in eleven Algerian patients with major histocompatibility complex class II expression deficiency.Allergy Asthma Clin Immunol. 2012; 8(1):14

Naamane H, El Maataoui O, Ailal F, Barakat A, Bennani S, Najib J, Hassar M, Saile R, Bousfiha AA, The 752delG26 mutation in the RFXANK gene associated with major histocompatibility complex class II deficiency: evidence for a founder effect in the Moroccan population.Eur. J. Pediatr.. 2010; 169(9):1069-74

Ouederni M, Vincent QB, Frange P, Touzot F, Scerra S, Bejaoui M, Bousfiha A, Levy Y, Lisowska-Grospierre B, Canioni D, Bruneau J, Debré M, Blanche S, Abel L, Casanova JL, Fischer A, Picard C, Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patients.Blood. 2011; 118(19):5108-18

Wiszniewski W, Fondaneche MC, Lambert N, Masternak K, Picard C, Notarangelo L, Schwartz K, Bal J, Reith W, Alcaide C, de Saint Basile G, Fischer A, Lisowska-Grospierre B, 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.Immunogenetics. 2000; 51(4):261-7