Puel, AnneCasanova, Jean-Laurent2022-08-122022-08-122015-01Kılıç, S. Ş. vd. (2015). "Orf infection in a patient with stat1 gain-of-function". Journal of Clinical Immunology, 35(1), 80-83.0271-91421573-2592https://doi.org/10.1007/s10875-014-0111-7https://link.springer.com/article/10.1007/s10875-014-0111-7http://hdl.handle.net/11452/28191Chronic 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.eninfo:eu-repo/semantics/closedAccessChronic Mucocutaneous CandidiasisOrf infectionSTAT1 gain-of-functionPrimary immunodeficiencyImmunologyVirus infectionGiant orfImmunityAutoantibodiesDeficiencyMutationsLymphomaHumansIl-17aAdultAnimalsAntiviral agentsBase sequenceCandidiasis, Chronic MucocutaneousCytosineDNA mutational analysisEcthyma, contagiousHumansImmunologic deficiency syndromesInterleukin-17MaleMutation, missenseOrganophosphonatesSheep, domesticSTAT1 transcription factorZoonosesArticle0003488056000112-s2.0-84943588600808335125367169ImmunologyContagious Ecthyma; Orf Virus; ParapoxvirusCardiolipin antibodyCaspofunginCidofovirCyanocobalaminImmunoglobulin GImmunoglobulin G2Immunoglobulin G4Immunoglobulin MLevothyroxinePosaconazolePseudomonic acidSTAT1 proteinVirus DNAAntivirus agentCytosine Interleukin 17Phosphonic acid derivativeSTAT1 protein, humanAdultArticleAutoimmune hemolytic anemiaAutoimmune thyroiditisBrain artery aneurysmCandidiasisCase reportCD4 lymphocyte countChimeraComputed tomographic angiographyContagious ecthymaCytomegalovirus infectionGain of function mutationGenetic screeningHematopoietic stem cell transplantationHepatitisHistopathologyHumanHuman tissueHypothyroidismLymphocyte countMaleMucocutaneous CandidiasisMycotic aneurysmNonhumanOrf virusPapular rashPernicious anemiaPneumoniaPriority journalSecondary infectionStudyVitamin supplementationAnalogs and derivativesAnimalCandidiasis, Chronic MucocutaneousComplicationDna mutational analysisDomestic sheepEcthyma, contagiousGeneticsImmune deficiencyImmunologyMetabolismMissense mutationNucleotide sequenceZoonosis