Orf Infection in a Patient with Stat1 Gain-of-Function
Sara Sebnem Kilic1, Anne Puel2, Jean-Laurent Casanova2,3,4
1Department of Pediatrics, Uludag University School of Medicine, Görükle, Bursa, 16059, Turkey. sebnemkl@uludag.edu.tr.
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.
Insights
A patient with a rare immune disorder, chronic mucocutaneous candidiasis (CMC), developed severe orf infection. Successful treatment with cidofovir highlights a new therapeutic approach for this rare condition.
Area of Science:
- Immunology
- Infectious Diseases
- Genetics
Background:
- Chronic mucocutaneous candidiasis (CMC) is an immunodeficiency often caused by IL-17 pathway defects.
- Orf is a zoonotic viral infection typically self-limiting, but can be severe in immunocompromised individuals.
Observation:
- A 34-year-old male with autosomal dominant CMC due to a STAT1 gain-of-function (GOF) mutation sustained a hand injury.
- This injury led to the development of a severe orf infection within two weeks.
Findings:
- The patient's severe orf infection was successfully treated with intravenous cidofovir injections administered bi-weekly for four months.
- This case represents the first documented instance of severe orf in a patient with genetically identified CMC and an IL-17 immunity defect.
Implications:
- This case underscores the potential severity of orf in patients with specific primary immunodeficiencies (PIDs).
- It suggests cidofovir as a potential therapeutic option for severe orf in individuals with STAT1 GOF mutations and CMC.
- Highlights the importance of genetic identification of PIDs for understanding infection susceptibility and guiding treatment.
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