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Gain-of-function STAT1 mutation and visceral leishmaniasis

2022; Instituto Israelita de Ensino e Pesquisa Albert Einstein; Volume: 20; Linguagem: Inglês

10.31744/einstein_journal/2022rc0048

2317-6385

Paula Teixeira Lyra, Ana Carla Augusto Moura Falcão, Rafael Amora Cruz, Antônio Victor Campos Coelho, Edvaldo da Silva Souza, Luiz Claúdio Arraes de Alencar, João Bosco Oliveira,

Immune Cell Function and Interaction

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 and Leishmania parasites. Treatment consisted primarily of liposomal amphotericin B, as per the Hemophagocytic Lymphohistiocytosis 2004 protocol. After eight weeks of treatment, the patient did not improve and was submitted to diagnostic splenectomy. Activated macrophages and nodular spleen necrosis secondary to the visceral leishmaniasis were detected. Unfortunately, the patient died in the second week after splenectomy due to overwhelming systemic infection. DNA sequencing revealed a pathogenic (p. R274Q) GOF mutation in STAT1.