OMIM: 209920Inheritance: Autosomal recessive
Classification: Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | RFXANK |
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| Dna Change: | c.338-25_338del26 (752delG26) |
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| Protein Change: | |
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| Mutation Type: | Deletion |
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| Mutation Effect: | Frameshift |
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| Location: | exon 6 |
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| Transcript: | NM_003721.3 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Algeria | NA | NA | 10 patients | NA | Wiszniewski 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 |
| Algeria | NA | NA | 19 patients | 2250 years ago | Ouederni 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 |
| Algeria | NA | NA | 9 patients/11 unrelated patients | NA | Djidjik 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 |
| Morocco | NA | NA | 1 patient | NA | Wiszniewski 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 |
| Morocco | NA | NA | 2 patients | 2250 years ago | Ouederni 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 |
| Morocco | NA | NA | 10 unrelated patients | NA | Naamane 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 |
| Tunisia | NA | NA | 3 patients | NA | Wiszniewski 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 |
| Tunisia | NA | NA | 3 patients | 2250 years ago | Ouederni 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 |
| Tunisia | NA | NA | 25 patients/34 patients from 28 kindred | NA | Ben-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