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Journal of Clinical Immunology

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01-01-2015 | Brief Communication

Orf Infection in a Patient with Stat1 Gain-of-Function

Authors: Sara Sebnem Kilic, Anne Puel, Jean-Laurent Casanova

Published in: Journal of Clinical Immunology | Issue 1/2015

Abstract

Purpose

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.

Methods and 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.

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Title: Orf Infection in a Patient with Stat1 Gain-of-Function
Authors: Sara Sebnem Kilic
Anne Puel
Jean-Laurent Casanova
Publication date: 01-01-2015
Publisher: Springer US
Published in: Journal of Clinical Immunology / Issue 1/2015
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI: https://doi.org/10.1007/s10875-014-0111-7

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