Kilic Sara Sebnem, Puel Anne, Casanova Jean-Laurent
Department of Pediatrics, Uludag University School of Medicine, Görükle, Bursa, 16059, Turkey.
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris Descartes University, Imagine Institute, Paris, EU, France.
J Clin Immunol. 2015 Jan;35(1):80-3. doi: 10.1007/s10875-014-0111-7. Epub 2014 Nov 4.
Chronic Mucocutaneous Candidiasis (CMC) refers to a group of immunodeficiencies, characterized by persistent or recurrent infections of the skin, nails, and mucosae caused by Candida. It is typically caused by inborn errors of IL-17 immunity. Orf, also known as contagious ecthyma, is a zoonotic infection caused by a dermatotropic parapoxvirus that commonly infects sheep and goats; it is transmitted to humans through contact with an infected animal or fomites. While orf is usually a benign self-limiting illness, it can be progressive and even life-threatening in immune-compromised hosts.
A 34-year-old man with autosomal dominant CMC due to a heterozygous STAT1 gain-of-function (GOF) mutation cut his hand with a knife during slaughter. Giant orf infection developed in 2 weeks. He was successfully treated by cidofovir injections every other week for 4 months.
This is the first patient with severe orf in the context of a well-defined genetically identified PID: CMC and inborn error of IL-17 immunity due to a GOF STAT1 mutation.
慢性黏膜皮肤念珠菌病（CMC）是指一组免疫缺陷病，其特征为念珠菌引起的皮肤、指甲和黏膜的持续或反复感染。它通常由IL-17免疫的先天性缺陷引起。羊痘疮，也称为接触传染性脓疱病，是一种由嗜皮肤性副痘病毒引起的人畜共患病，常见于感染绵羊和山羊；它通过与受感染动物或污染物接触传播给人类。虽然羊痘疮通常是一种良性自限性疾病，但在免疫功能低下的宿主中可能会进展甚至危及生命。
一名34岁因杂合性STAT1功能获得性（GOF）突变导致常染色体显性CMC的男性在屠宰时用刀割伤了手。2周后出现巨大羊痘疮感染。每隔一周给予西多福韦注射治疗4个月，患者成功治愈。
这是首例在明确的基因鉴定的原发性免疫缺陷病（PID）背景下出现严重羊痘疮的患者，该PID为CMC且因STAT1 GOF突变导致IL-17免疫先天性缺陷。
