title: IL36RN mutation causing generalized pustular psoriasis in a Palestinian patient.
abstract: Deficiency of interleukin-36 (IL-36) receptor antagonist (DITRA; OMIM 614204) is a rare autoinflammatory disorder characterized by periodic fever associated with a generalized erythematous and pustular skin rash. A 6-year-old Arab-Palestinian boy presented with a history of periodic fever and unremitting, erythematous, scaly skin rash accompanied by widespread pustules that had been present since the age of one month. The patient's skin lesions were compatible with generalized pustular psoriasis. Sequence analysis revealed a homozygous nonsense mutation, c.28C>T (p.Arg10X) in the IL36RN gene. The patient improved with oral methotrexate in combination with oral and topical corticosteroids. The molecular basis for DITRA has only recently been identified, and the mutation spectrum for this disorder in many populations is still obscure. This paper reports the presence of the c.28C>T mutation in an Arab-Palestinian patient and thus represents the first description of this mutation in a non-Japanese subject.
authors.affiliation: Department of Dermatology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
authors.forename: Yael
authors.initials: Y
authors.lastname: Renert-Yuval
authors.forename: Liran
authors.initials: L
authors.lastname: Horev
authors.forename: Sofia
authors.initials: S
authors.lastname: Babay
authors.forename: Spiro
authors.initials: S
authors.lastname: Tams
authors.forename: Yuval
authors.initials: Y
authors.lastname: Ramot
authors.forename: Abraham
authors.initials: A
authors.lastname: Zlotogorski
authors.forename: Vered
authors.initials: V
authors.lastname: Molho-Pessach
mesh_terms: D018912:Arabs; D002648:Child; D018389:Codon, Nonsense; D006801:Humans; D007378:Interleukins / Q000172:deficiency* / Q000235:genetics*; D008297:Male; D011565:Psoriasis / Q000188:drug therapy / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; C122187:IL36RN protein, human; D007378:Interleukins