05/Sep/2022
Gain-of-function STAT1 mutation and visceral leishmaniasis
DOI: 10.31744/einstein_journal/2022RC0048
ABSTRACT Gain-of-function mutations in the STAT1 gene have been initially associated with chronic mucocutaneous candidiasis. However, further research has shown that STAT1 GOF variants may increase susceptibility to infection by other intracellular pathogens. This report describes the first case of disseminated leishmaniasis associated with a STAT1 GOF mutation in a pediatric patient who did not have chronic mucocutaneous candidiasis. The patient was a four-year-old boy presenting with fever, severe asthenia, hepatosplenomegaly, pancytopenia, and liver failure. Bone marrow aspirate revealed hemophagocytosis […]
Keywords: Germ-line mutation; Leishmaniasis, visceral; Lymphohistiocytosis, hemophagocytic; Sequence analysis, DNA; STAT1 transcription factor