Renert-Yuval Yael, Horev Liran, Babay Sofia, Tams Spiro, Ramot Yuval, Zlotogorski Abraham, Molho-Pessach Vered
Department of Dermatology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Int J Dermatol. 2014 Jul;53(7):866-8. doi: 10.1111/ijd.12525. Epub 2014 Jun 5.
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.
白细胞介素-36（IL-36）受体拮抗剂缺乏症（DITRA；OMIM 614204）是一种罕见的自身炎症性疾病，其特征为周期性发热，并伴有全身性红斑和脓疱性皮疹。一名6岁的阿拉伯-巴勒斯坦男孩有周期性发热病史，自1个月大起就出现持续的红斑、鳞屑性皮疹，并伴有广泛的脓疱。患者的皮肤病变符合泛发性脓疱型银屑病。序列分析显示IL36RN基因存在纯合无义突变，c.28C>T（p.Arg10X）。患者口服甲氨蝶呤联合口服和外用皮质类固醇后病情好转。DITRA的分子基础直到最近才被确定，该疾病在许多人群中的突变谱仍不清楚。本文报道了一名阿拉伯-巴勒斯坦患者存在c.28C>T突变，这是该突变在非日本受试者中的首次描述。
