Interleukin 36-Rezeptor-Antagonist
Das IL36RN-Gen kodiert ein Zytokin der Interleukin 1-Familie. Mutationen führen zu autosomal rezessiven pustulären Psoriasis-Erkrankungen, die pustulöre Psoriasis 14 und das DITRA-Erkrankung.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Nicklin MJ et al. (2002) A sequence-based map of the nine genes of the human interleukin-1 cluster.
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2. |
Mulero JJ et al. (1999) IL1HY1: A novel interleukin-1 receptor antagonist gene.
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3. |
Smith DE et al. (2000) Four new members expand the interleukin-1 superfamily.
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4. |
Busfield SJ et al. (2000) Identification and gene organization of three novel members of the IL-1 family on human chromosome 2.
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5. |
Johnston A et al. (2011) IL-1F5, -F6, -F8, and -F9: a novel IL-1 family signaling system that is active in psoriasis and promotes keratinocyte antimicrobial peptide expression.
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6. |
Onoufriadis A et. al. (2011) Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis.
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7. |
Marrakchi S et al. (2011) Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis.
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8. |
Sugiura K et al. (2012) A novel IL36RN/IL1F5 homozygous nonsense mutation, p.Arg10X, in a Japanese patient with adult-onset generalized pustular psoriasis.
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9. |
Farooq M et. al. (2013) Mutation analysis of the IL36RN gene in 14 Japanese patients with generalized pustular psoriasis.
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10. |
Setta-Kaffetzi N et al. (2013) Rare pathogenic variants in IL36RN underlie a spectrum of psoriasis-associated pustular phenotypes.
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11. |
Krber A et. al. (2013) Mutations in IL36RN in patients with generalized pustular psoriasis.
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12. |
Sugiura K et al. (2013) The majority of generalized pustular psoriasis without psoriasis vulgaris is caused by deficiency of interleukin-36 receptor antagonist.
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13. |
Berki DM et. al. (2014) Loss of IL36RN function does not confer susceptibility to psoriasis vulgaris.
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14. |
Li M et. al. (2013) Prevalent and rare mutations in IL-36RN gene in Chinese patients with generalized pustular psoriasis and psoriasis vulgaris.
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Update: 14. August 2020