Article
Coinfection of Leprosy and Chronic Mucocutaneous Candidiasis in a Family with STAT1 Gain-of-Function Mutation.
The American journal of tropical medicine and hygiene - 8 Jan 2025
de Oliveira Rekowski Lais Lima, Caldas Gustavo Costa, Menezes-Silva Lucas, Santos Camilla Natália Oliveira, Magalhães Lucas Sousa, Cazzaniga Rodrigo Anselmo, Dos Santos Nailson Alves, Santos Priscila Lima, Louzada da Silva Ricardo Luís, da Silva Angela Maria, Holland Steven M, de Jesus Amelia Ribeiro
Abstract excerpt
This report documents the first known cases of lepromatous leprosy in patients with chronic mucocutaneous candidiasis (CMC) linked to a gain-of-function mutation in the STAT1 gene. Two related patients, a mother and daughter, who both suffer from CMC and lepromatous leprosy, carry a heterozygous STAT1 mutation (c.821G>A; p.R274Q). Both individuals exhibited similarly high levels of total and phosphorylated STAT1...
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