Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Psoriasis 14

Die pustulöse Psoriasis 14 ist eine autosomal rezessive generalisierte potentiell lebensbedrohliche Hauterkrankung, die durch Mutationen im IL36RN-Gen hervorgerufen wird. Sie ist charakterisiert durch rezidivierende Episoden mit erythematösen Hautausschlägen, die sterile Pusteln bilden und von hohem Fieber und Leukozytose begleitet sind.

Gliederung

Psoriasis 02
CARD14

Referenzen:

1.

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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2.

Marrakchi S et. al. (2011) Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis.

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3.

Farooq M et. al. (2013) Mutation analysis of the IL36RN gene in 14 Japanese patients with generalized pustular psoriasis.

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4.

Setta-Kaffetzi N et. al. (2013) Rare pathogenic variants in IL36RN underlie a spectrum of psoriasis-associated pustular phenotypes.

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5.

Krber A et. al. (2013) Mutations in IL36RN in patients with generalized pustular psoriasis.

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6.

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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7.

Berki DM et. al. (2014) Loss of IL36RN function does not confer susceptibility to psoriasis vulgaris.

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8.

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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9.

None (2013) IL36RN mutations in generalized pustular psoriasis: just the tip of the iceberg?

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Update: 8. Mai 2019