Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Pustular psoriasis 14 is an autosomal recessive generalized dermatological potentially life-threatening disorder that is caused by mutations of the IL36RN gene. It is characterized by recurrent episodes of erythematous cutaneous eruptions that develop sterile pustules accopanied by high fever and leukocytosis.
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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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