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Gain-of-function STAT1 mutation and visceral leishmaniasis
Paula Teixeira Lyra1, Ana Carla Augusto Moura Falcão1, Rafael Amora Cruz1
1Instituto de Medicina Integral Professor Fernando Figueira, Recife, PE, Brazil.
Einstein (Sao Paulo, Brazil)
|September 14, 2022
Summary
STAT1 gain-of-function mutations can cause leishmaniasis, not just candidiasis. This case highlights a pediatric patient with disseminated leishmaniasis and a STAT1 mutation, emphasizing broader infection risks.
Area of Science:
- Immunology
- Genetics
- Infectious Diseases
Background:
- Gain-of-function (GOF) mutations in the Signal Transducer and Activator of Transcription 1 (STAT1) gene are primarily linked to chronic mucocutaneous candidiasis.
- Emerging evidence suggests STAT1 GOF variants may predispose individuals to infections by various intracellular pathogens.
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