Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Interleukin 36-Rezeptor-Antagonist-Mangel

DITRA-Erkrankung ist eine autosomal rezessive Immunschwäche mit rezidivierender pustulöser Psoriasis.

Gliederung

Erbliche Hauterkrankungen
Autoinflammation mit Arthritis und Dyskeratose
Chronische atypische neutrophile Dermatose mit Lipodystrophie und erhöhter Temperatur
Epidermolysis bullosa
Familiäre Acne inversa 1
Interleukin 36-Rezeptor-Antagonist-Mangel
IL36RN
Interstitielle Lungenerkrankung mit nephrotischem Syndrom und Epidemiolysis bullosa
Keratosis linearis - Ichthyosis congenita - sklerosierendes Keratoderm
Neigung zu Vitiligo-assoziierter multipler Autoimmunerkrankung 1
Nephropathie mit prätibialer epidermolysis bullosa und Schwerhörigkeit
Periodisches Fieber mit Beginn im Kindesalter-Pannikulitis-Dermatose-Syndrom
Piebaldismus
Pityriasis rubra pilaris
Psoriasis 02
Psoriasis 14
Psoriasis 15
Pyoderma gangraenosum, Acne und Hidradenitis suppurativa (PASH)
Pyogene Arthritis - Pyoderma gangraenosum - Akne - Syndrom

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