title: Orf Infection in a Patient with Stat1 Gain-of-Function.
abstract: OBJECTIVE
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Pediatrics, Uludag University School of Medicine, Görükle, Bursa, 16059, Turkey. sebnemkl@uludag.edu.tr.
authors.forename: Sara Sebnem
authors.initials: SS
authors.lastname: Kilic
authors.affiliation: Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris Descartes University, Imagine Institute, Paris, EU, France.
authors.forename: Anne
authors.initials: A
authors.lastname: Puel
authors.affiliation: Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris Descartes University, Imagine Institute, Paris, EU, France.|St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, 10065, NY, USA.|Howard Hughes Medical Institute, New York, NY, USA.
authors.forename: Jean-Laurent
authors.initials: JL
authors.lastname: Casanova
mesh_terms: D000328:Adult; D000818:Animals; D000998:Antiviral Agents / Q000627:therapeutic use; D001483:Base Sequence; D002178:Candidiasis, Chronic Mucocutaneous / Q000209:etiology / Q000235:genetics / Q000276:immunology; D000077404:Cidofovir; D003596:Cytosine / Q000031:analogs & derivatives / Q000627:therapeutic use; D004252:DNA Mutational Analysis; D004474:Ecthyma, Contagious / Q000188:drug therapy / Q000209:etiology / Q000235:genetics*; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications / Q000235:genetics / Q000276:immunology; D020381:Interleukin-17 / Q000378:metabolism; D008297:Male; D020125:Mutation, Missense; D063065:Organophosphonates / Q000627:therapeutic use; D050794:STAT1 Transcription Factor / Q000235:genetics*; D034561:Sheep, Domestic; D015047:Zoonoses / Q000235:genetics / Q000276:immunology
chemical_list: D000998:Antiviral Agents; D020381:Interleukin-17; D063065:Organophosphonates; D050794:STAT1 Transcription Factor; C494079:STAT1 protein, human; D003596:Cytosine; D000077404:Cidofovir
keywords: Chronic mucocutaneous candidiasis; STAT1 gain-of-function; orf infection; primary immunodeficiency