Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

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
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Psoriasis 14
IL36RN
Interleukin 36-Rezeptor-Antagonist-Mangel
IL36RN

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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15.
Update: 9. Mai 2019