OMIM: 612852Inheritance: 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: | IL1RN |
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| Dna Change: | c.355C>T |
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| Protein Change: | p.Gln119X |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Nonsense |
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| Location: | exon 4 |
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| Transcript: | NM_173842.2 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Turkey | NA | NA | 2 patients | NA | Altiok E et al., 2012Altiok E, Aksoy F, Perk Y, Taylan F, Kim PW, Ilıkkan B, Asal GT, Goldbach-Mansky R, Sanal O, . A novel mutation in the interleukin-1 receptor antagonist associated with intrauterine disease onset.. Clin. Immunol.. 2012; 145(1):77-81 |
| Gene/Locus: | IL1RN |
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| Dna Change: | |
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| Protein Change: | p.R26X |
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| Mutation Type: | |
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| Mutation Effect: | Nonsense |
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| Location: | |
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| Transcript: | |
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References
Altiok E, Aksoy F, Perk Y, Taylan F, Kim PW, Ilıkkan B, Asal GT, Goldbach-Mansky R, Sanal O, A novel mutation in the interleukin-1 receptor antagonist associated with intrauterine disease onset.Clin. Immunol.. 2012; 145(1):77-81
Ulusoy E, Karaca NE, El-Shanti H, Kilicoglu E, Aksu G, Kutukculer N, Interleukin-1 receptor antagonist deficiency with a novel mutation; late onset and successful treatment with canakinumab: a case report.J Med Case Rep. 2015; 9(1):145