IL36RN mutations define a severe autoinflammatory phenotype of generalized pustular psoriasis.
نویسندگان
چکیده
منابع مشابه
P02-002 - IL36RN mutations in patients with DITRA
Introduction Loss-of-function mutations in the IL36RN gene define a novel recessively inherited autoinflammatory syndrome named deficiency of IL-36 receptor antagonist (DITRA). This genetically determined deficiency was first described in a subgroup of patients with generalized pustular psoriasis. It is a life-threatening condition characterized by recurrent episodes of severe skin inflammation...
متن کاملGeneralized pustular psoriasis in infant with heterozygous mutation in the IL36RN gene successfully treated with infliximab
Introduction Homozygous missense mutation in the IL36RN gene resulting in deficiency of interleukin-36-receptor antagonist (DITRA) is phenotypically presented as severe generalized pustular psoriasis starting in early childhood. Compound heterozygous cases have been described with the same DITRA phenotype, but to our knowledge heterozygous IL36RN mutation related to severe generalized pustular ...
متن کاملA novel mutation in IL36RN underpins childhood pustular dermatosis
BACKGROUND Chronic pustular dermatoses are severe and debilitating autoinflammatory conditions that can have a monogenic basis. Their clinical features are, however, complex with considerable overlap. Null and missense mutations in the genes encoding interleukin (IL)-1 family (IL-1 and IL-36) anti-inflammatory receptor antagonist (Ra) cytokines can underlie the development of severe pustular de...
متن کاملOR6-006 – IL36RN alleles in skin auto-inflammation
Results We found IL36RN recessive mutations in patients with GPP (7/84) and localised pustular psoriasis (2/9 cases of Acrodermatitis Continua of Hallopeau and 3/139 cases of plamar-plantar pustulosis), but not among PV cases. Of note, we also identified several affected individuals who carried a single heterozygous mutation. In fact, we uncovered a significant enrichment of heterozygous IL36RN...
متن کاملA Case of Old Age-Onset Generalized Pustular Psoriasis with a Deficiency of IL-36RN (DITRA) Treated by Granulocyte and Monocyte Apheresis
A 78-year-old woman who had been suffering from psoriasis vulgaris for 31 years was admitted to hospital because of her erythroderma. A toxic eruption was suspected and she was treated with prednisolone 30 mg daily. However, it was ineffective and, suspecting psoriatic erythroderma, cyclosporine 150 mg daily was administered with tapering of the prednisolone. Two weeks after a dose reduction of...
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ورودعنوان ژورنال:
- The Journal of allergy and clinical immunology
دوره 135 4 شماره
صفحات -
تاریخ انتشار 2015