Gain-of-function STAT1 mutation and visceral leishmaniasis
Autor(a) principal: | |
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Data de Publicação: | 2022 |
Outros Autores: | , , , , , |
Tipo de documento: | Relatório |
Idioma: | eng |
Título da fonte: | Einstein (São Paulo) |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1679-45082022000100517 |
Resumo: | 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 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. |
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Gain-of-function STAT1 mutation and visceral leishmaniasisSTAT1 transcription factorGerm-line mutationSequence analysis, DNALeishmaniasis, visceralLymphohistiocytosis, hemophagocyticABSTRACT 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.Instituto Israelita de Ensino e Pesquisa Albert Einstein2022-01-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1679-45082022000100517einstein (São Paulo) v.20 2022reponame:Einstein (São Paulo)instname:Instituto Israelita de Ensino e Pesquisa Albert Einstein (IIEPAE)instacron:IIEPAE10.31744/einstein_journal/2022rc0048info:eu-repo/semantics/openAccessLyra,Paula TeixeiraFalcão,Ana Carla Augusto MouraCruz,Rafael AmoraCoelho,Antonio Victor CamposSouza,Edvaldo da SilvaAlencar,Luiz Claudio Arraes deOliveira,João Boscoeng2022-09-06T00:00:00Zoai:scielo:S1679-45082022000100517Revistahttps://journal.einstein.br/pt-br/ONGhttps://old.scielo.br/oai/scielo-oai.php||revista@einstein.br2317-63851679-4508opendoar:2022-09-06T00:00Einstein (São Paulo) - Instituto Israelita de Ensino e Pesquisa Albert Einstein (IIEPAE)false |
dc.title.none.fl_str_mv |
Gain-of-function STAT1 mutation and visceral leishmaniasis |
title |
Gain-of-function STAT1 mutation and visceral leishmaniasis |
spellingShingle |
Gain-of-function STAT1 mutation and visceral leishmaniasis Lyra,Paula Teixeira STAT1 transcription factor Germ-line mutation Sequence analysis, DNA Leishmaniasis, visceral Lymphohistiocytosis, hemophagocytic |
title_short |
Gain-of-function STAT1 mutation and visceral leishmaniasis |
title_full |
Gain-of-function STAT1 mutation and visceral leishmaniasis |
title_fullStr |
Gain-of-function STAT1 mutation and visceral leishmaniasis |
title_full_unstemmed |
Gain-of-function STAT1 mutation and visceral leishmaniasis |
title_sort |
Gain-of-function STAT1 mutation and visceral leishmaniasis |
author |
Lyra,Paula Teixeira |
author_facet |
Lyra,Paula Teixeira Falcão,Ana Carla Augusto Moura Cruz,Rafael Amora Coelho,Antonio Victor Campos Souza,Edvaldo da Silva Alencar,Luiz Claudio Arraes de Oliveira,João Bosco |
author_role |
author |
author2 |
Falcão,Ana Carla Augusto Moura Cruz,Rafael Amora Coelho,Antonio Victor Campos Souza,Edvaldo da Silva Alencar,Luiz Claudio Arraes de Oliveira,João Bosco |
author2_role |
author author author author author author |
dc.contributor.author.fl_str_mv |
Lyra,Paula Teixeira Falcão,Ana Carla Augusto Moura Cruz,Rafael Amora Coelho,Antonio Victor Campos Souza,Edvaldo da Silva Alencar,Luiz Claudio Arraes de Oliveira,João Bosco |
dc.subject.por.fl_str_mv |
STAT1 transcription factor Germ-line mutation Sequence analysis, DNA Leishmaniasis, visceral Lymphohistiocytosis, hemophagocytic |
topic |
STAT1 transcription factor Germ-line mutation Sequence analysis, DNA Leishmaniasis, visceral Lymphohistiocytosis, hemophagocytic |
description |
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 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. |
publishDate |
2022 |
dc.date.none.fl_str_mv |
2022-01-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/report |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
report |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1679-45082022000100517 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1679-45082022000100517 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.31744/einstein_journal/2022rc0048 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Instituto Israelita de Ensino e Pesquisa Albert Einstein |
publisher.none.fl_str_mv |
Instituto Israelita de Ensino e Pesquisa Albert Einstein |
dc.source.none.fl_str_mv |
einstein (São Paulo) v.20 2022 reponame:Einstein (São Paulo) instname:Instituto Israelita de Ensino e Pesquisa Albert Einstein (IIEPAE) instacron:IIEPAE |
instname_str |
Instituto Israelita de Ensino e Pesquisa Albert Einstein (IIEPAE) |
instacron_str |
IIEPAE |
institution |
IIEPAE |
reponame_str |
Einstein (São Paulo) |
collection |
Einstein (São Paulo) |
repository.name.fl_str_mv |
Einstein (São Paulo) - Instituto Israelita de Ensino e Pesquisa Albert Einstein (IIEPAE) |
repository.mail.fl_str_mv |
||revista@einstein.br |
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1752129911322050560 |