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Interleukin-36 receptor antagonist protein

The IL36RN gene encodes a cytokin that belongs to the interleukin 1 family. Mutations cause severe pustular forms of psoriasis (pustular psoriasis 14 and DITRA disease).

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Psoriasis 14
IL36RN
Interleukin 36 receptor antagonist deficiency
IL36RN

References:

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: Aug. 14, 2020
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