Case report: De novo SAMD9L truncation causes neonatal-onset autoinflammatory syndrome which was successfully treated with hematopoietic stem cell transplantation
- Autores
- Caldirola, Maria Soledad; Seminario, Analia Gisela; Luna, Paula Carolina; Curciarello, Renata; Docena, Guillermo H.; Fernandez Escobar, Nicolás; Drelichman, Guillermo; Gattorno, Marco; de Jesus, Adriana A.; Goldbach Mansky, Raphaela; Gaillard, María Isabel; Bezrodnik, Liliana
- Año de publicación
- 2023
- Idioma
- inglés
- Tipo de recurso
- artículo
- Estado
- versión publicada
- Descripción
- During recent years, the identification of monogenic mutations that cause sterile inflammation has expanded the spectrum of autoinflammatory diseases, clinical disorders characterized by uncontrolled systemic and organ-specific inflammation that, in some cases, can mirror infectious conditions. Early studies support the concept of innate immune dysregulation with a predominance of myeloid effector cell dysregulation, particularly neutrophils and macrophages, in causing tissue inflammation. However, recent discoveries have shown a complex overlap of features of autoinflammation and/or immunodeficiency contributing to severe disease phenotypes. Here, we describe the first Argentine patient with a newly described frameshift mutation in SAMD9L c.2666delT/p.F889Sfs*2 presenting with a complex phenotypic overlap of CANDLE-like features and severe infection-induced cytopenia and immunodeficiency. The patient underwent a fully matched unrelated HSCT and has since been in inflammatory remission 5 years post-HSCT.
Fil: Caldirola, Maria Soledad. Gobierno de la Ciudad de Buenos Aires. Instituto Multidisciplinario de Investigaciones en Patologías Pediátricas. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto Multidisciplinario de Investigaciones en Patologías Pediátricas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutiérrez". Area de Inmunología. Grupo de Inmunología; Argentina
Fil: Seminario, Analia Gisela. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutiérrez". Area de Inmunología. Grupo de Inmunología; Argentina
Fil: Luna, Paula Carolina. Hospital Alemán; Argentina
Fil: Curciarello, Renata. Universidad Nacional de La Plata. Facultad de Ciencias Exactas; Argentina
Fil: Docena, Guillermo H.. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto de Estudios Inmunológicos y Fisiopatológicos. Universidad Nacional de La Plata. Facultad de Ciencias Exactas. Instituto de Estudios Inmunológicos y Fisiopatológicos; Argentina
Fil: Fernandez Escobar, Nicolás. Fundación Favaloro; Argentina
Fil: Drelichman, Guillermo. Fundación Favaloro; Argentina
Fil: Gattorno, Marco. Fundación Favaloro; Argentina
Fil: de Jesus, Adriana A.. National Institute Of Allegry & Infectious Diseases (niaid) ; National Institutes Of Health;
Fil: Goldbach Mansky, Raphaela. National Institute Of Allegry & Infectious Diseases (niaid) ; National Institutes Of Health;
Fil: Gaillard, María Isabel. Stamboulian; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutiérrez". Area de Inmunología. Grupo de Inmunología; Argentina
Fil: Bezrodnik, Liliana. Centro de Inmunología Clínica Dra.liliana Bezrodnik; Argentina - Materia
-
AUTOINFLAMMATORY SYNDROMES
CANDLE-LIKE SYNDROME
CASE REPORT
PRIMARY IMMUNODEFICIENCIES
SAMD9L
STERILE ALPHA MOTIF DOMAIN CONTAINING 9 LIKE - Nivel de accesibilidad
- acceso abierto
- Condiciones de uso
- https://creativecommons.org/licenses/by/2.5/ar/
- Repositorio
- Institución
- Consejo Nacional de Investigaciones Científicas y Técnicas
- OAI Identificador
- oai:ri.conicet.gov.ar:11336/227287
Ver los metadatos del registro completo
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oai:ri.conicet.gov.ar:11336/227287 |
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CONICET Digital (CONICET) |
spelling |
Case report: De novo SAMD9L truncation causes neonatal-onset autoinflammatory syndrome which was successfully treated with hematopoietic stem cell transplantationCaldirola, Maria SoledadSeminario, Analia GiselaLuna, Paula CarolinaCurciarello, RenataDocena, Guillermo H.Fernandez Escobar, NicolásDrelichman, GuillermoGattorno, Marcode Jesus, Adriana A.Goldbach Mansky, RaphaelaGaillard, María IsabelBezrodnik, LilianaAUTOINFLAMMATORY SYNDROMESCANDLE-LIKE SYNDROMECASE REPORTPRIMARY IMMUNODEFICIENCIESSAMD9LSTERILE ALPHA MOTIF DOMAIN CONTAINING 9 LIKEhttps://purl.org/becyt/ford/3.3https://purl.org/becyt/ford/3During recent years, the identification of monogenic mutations that cause sterile inflammation has expanded the spectrum of autoinflammatory diseases, clinical disorders characterized by uncontrolled systemic and organ-specific inflammation that, in some cases, can mirror infectious conditions. Early studies support the concept of innate immune dysregulation with a predominance of myeloid effector cell dysregulation, particularly neutrophils and macrophages, in causing tissue inflammation. However, recent discoveries have shown a complex overlap of features of autoinflammation and/or immunodeficiency contributing to severe disease phenotypes. Here, we describe the first Argentine patient with a newly described frameshift mutation in SAMD9L c.2666delT/p.F889Sfs*2 presenting with a complex phenotypic overlap of CANDLE-like features and severe infection-induced cytopenia and immunodeficiency. The patient underwent a fully matched unrelated HSCT and has since been in inflammatory remission 5 years post-HSCT.Fil: Caldirola, Maria Soledad. Gobierno de la Ciudad de Buenos Aires. Instituto Multidisciplinario de Investigaciones en Patologías Pediátricas. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto Multidisciplinario de Investigaciones en Patologías Pediátricas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutiérrez". Area de Inmunología. Grupo de Inmunología; ArgentinaFil: Seminario, Analia Gisela. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutiérrez". Area de Inmunología. Grupo de Inmunología; ArgentinaFil: Luna, Paula Carolina. Hospital Alemán; ArgentinaFil: Curciarello, Renata. Universidad Nacional de La Plata. Facultad de Ciencias Exactas; ArgentinaFil: Docena, Guillermo H.. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto de Estudios Inmunológicos y Fisiopatológicos. Universidad Nacional de La Plata. Facultad de Ciencias Exactas. Instituto de Estudios Inmunológicos y Fisiopatológicos; ArgentinaFil: Fernandez Escobar, Nicolás. Fundación Favaloro; ArgentinaFil: Drelichman, Guillermo. Fundación Favaloro; ArgentinaFil: Gattorno, Marco. Fundación Favaloro; ArgentinaFil: de Jesus, Adriana A.. National Institute Of Allegry & Infectious Diseases (niaid) ; National Institutes Of Health;Fil: Goldbach Mansky, Raphaela. National Institute Of Allegry & Infectious Diseases (niaid) ; National Institutes Of Health;Fil: Gaillard, María Isabel. Stamboulian; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutiérrez". Area de Inmunología. Grupo de Inmunología; ArgentinaFil: Bezrodnik, Liliana. Centro de Inmunología Clínica Dra.liliana Bezrodnik; ArgentinaFrontiers Media2023-03info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/227287Caldirola, Maria Soledad; Seminario, Analia Gisela; Luna, Paula Carolina; Curciarello, Renata; Docena, Guillermo H.; et al.; Case report: De novo SAMD9L truncation causes neonatal-onset autoinflammatory syndrome which was successfully treated with hematopoietic stem cell transplantation; Frontiers Media; Frontiers in Pediatrics; 11; 3-2023; 1-62296-2360CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://www.frontiersin.org/articles/10.3389/fped.2023.1108207/fullinfo:eu-repo/semantics/altIdentifier/doi/10.3389/fped.2023.1108207info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T10:38:40Zoai:ri.conicet.gov.ar:11336/227287instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-29 10:38:41.23CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse |
dc.title.none.fl_str_mv |
Case report: De novo SAMD9L truncation causes neonatal-onset autoinflammatory syndrome which was successfully treated with hematopoietic stem cell transplantation |
title |
Case report: De novo SAMD9L truncation causes neonatal-onset autoinflammatory syndrome which was successfully treated with hematopoietic stem cell transplantation |
spellingShingle |
Case report: De novo SAMD9L truncation causes neonatal-onset autoinflammatory syndrome which was successfully treated with hematopoietic stem cell transplantation Caldirola, Maria Soledad AUTOINFLAMMATORY SYNDROMES CANDLE-LIKE SYNDROME CASE REPORT PRIMARY IMMUNODEFICIENCIES SAMD9L STERILE ALPHA MOTIF DOMAIN CONTAINING 9 LIKE |
title_short |
Case report: De novo SAMD9L truncation causes neonatal-onset autoinflammatory syndrome which was successfully treated with hematopoietic stem cell transplantation |
title_full |
Case report: De novo SAMD9L truncation causes neonatal-onset autoinflammatory syndrome which was successfully treated with hematopoietic stem cell transplantation |
title_fullStr |
Case report: De novo SAMD9L truncation causes neonatal-onset autoinflammatory syndrome which was successfully treated with hematopoietic stem cell transplantation |
title_full_unstemmed |
Case report: De novo SAMD9L truncation causes neonatal-onset autoinflammatory syndrome which was successfully treated with hematopoietic stem cell transplantation |
title_sort |
Case report: De novo SAMD9L truncation causes neonatal-onset autoinflammatory syndrome which was successfully treated with hematopoietic stem cell transplantation |
dc.creator.none.fl_str_mv |
Caldirola, Maria Soledad Seminario, Analia Gisela Luna, Paula Carolina Curciarello, Renata Docena, Guillermo H. Fernandez Escobar, Nicolás Drelichman, Guillermo Gattorno, Marco de Jesus, Adriana A. Goldbach Mansky, Raphaela Gaillard, María Isabel Bezrodnik, Liliana |
author |
Caldirola, Maria Soledad |
author_facet |
Caldirola, Maria Soledad Seminario, Analia Gisela Luna, Paula Carolina Curciarello, Renata Docena, Guillermo H. Fernandez Escobar, Nicolás Drelichman, Guillermo Gattorno, Marco de Jesus, Adriana A. Goldbach Mansky, Raphaela Gaillard, María Isabel Bezrodnik, Liliana |
author_role |
author |
author2 |
Seminario, Analia Gisela Luna, Paula Carolina Curciarello, Renata Docena, Guillermo H. Fernandez Escobar, Nicolás Drelichman, Guillermo Gattorno, Marco de Jesus, Adriana A. Goldbach Mansky, Raphaela Gaillard, María Isabel Bezrodnik, Liliana |
author2_role |
author author author author author author author author author author author |
dc.subject.none.fl_str_mv |
AUTOINFLAMMATORY SYNDROMES CANDLE-LIKE SYNDROME CASE REPORT PRIMARY IMMUNODEFICIENCIES SAMD9L STERILE ALPHA MOTIF DOMAIN CONTAINING 9 LIKE |
topic |
AUTOINFLAMMATORY SYNDROMES CANDLE-LIKE SYNDROME CASE REPORT PRIMARY IMMUNODEFICIENCIES SAMD9L STERILE ALPHA MOTIF DOMAIN CONTAINING 9 LIKE |
purl_subject.fl_str_mv |
https://purl.org/becyt/ford/3.3 https://purl.org/becyt/ford/3 |
dc.description.none.fl_txt_mv |
During recent years, the identification of monogenic mutations that cause sterile inflammation has expanded the spectrum of autoinflammatory diseases, clinical disorders characterized by uncontrolled systemic and organ-specific inflammation that, in some cases, can mirror infectious conditions. Early studies support the concept of innate immune dysregulation with a predominance of myeloid effector cell dysregulation, particularly neutrophils and macrophages, in causing tissue inflammation. However, recent discoveries have shown a complex overlap of features of autoinflammation and/or immunodeficiency contributing to severe disease phenotypes. Here, we describe the first Argentine patient with a newly described frameshift mutation in SAMD9L c.2666delT/p.F889Sfs*2 presenting with a complex phenotypic overlap of CANDLE-like features and severe infection-induced cytopenia and immunodeficiency. The patient underwent a fully matched unrelated HSCT and has since been in inflammatory remission 5 years post-HSCT. Fil: Caldirola, Maria Soledad. Gobierno de la Ciudad de Buenos Aires. Instituto Multidisciplinario de Investigaciones en Patologías Pediátricas. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto Multidisciplinario de Investigaciones en Patologías Pediátricas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutiérrez". Area de Inmunología. Grupo de Inmunología; Argentina Fil: Seminario, Analia Gisela. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutiérrez". Area de Inmunología. Grupo de Inmunología; Argentina Fil: Luna, Paula Carolina. Hospital Alemán; Argentina Fil: Curciarello, Renata. Universidad Nacional de La Plata. Facultad de Ciencias Exactas; Argentina Fil: Docena, Guillermo H.. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto de Estudios Inmunológicos y Fisiopatológicos. Universidad Nacional de La Plata. Facultad de Ciencias Exactas. Instituto de Estudios Inmunológicos y Fisiopatológicos; Argentina Fil: Fernandez Escobar, Nicolás. Fundación Favaloro; Argentina Fil: Drelichman, Guillermo. Fundación Favaloro; Argentina Fil: Gattorno, Marco. Fundación Favaloro; Argentina Fil: de Jesus, Adriana A.. National Institute Of Allegry & Infectious Diseases (niaid) ; National Institutes Of Health; Fil: Goldbach Mansky, Raphaela. National Institute Of Allegry & Infectious Diseases (niaid) ; National Institutes Of Health; Fil: Gaillard, María Isabel. Stamboulian; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutiérrez". Area de Inmunología. Grupo de Inmunología; Argentina Fil: Bezrodnik, Liliana. Centro de Inmunología Clínica Dra.liliana Bezrodnik; Argentina |
description |
During recent years, the identification of monogenic mutations that cause sterile inflammation has expanded the spectrum of autoinflammatory diseases, clinical disorders characterized by uncontrolled systemic and organ-specific inflammation that, in some cases, can mirror infectious conditions. Early studies support the concept of innate immune dysregulation with a predominance of myeloid effector cell dysregulation, particularly neutrophils and macrophages, in causing tissue inflammation. However, recent discoveries have shown a complex overlap of features of autoinflammation and/or immunodeficiency contributing to severe disease phenotypes. Here, we describe the first Argentine patient with a newly described frameshift mutation in SAMD9L c.2666delT/p.F889Sfs*2 presenting with a complex phenotypic overlap of CANDLE-like features and severe infection-induced cytopenia and immunodeficiency. The patient underwent a fully matched unrelated HSCT and has since been in inflammatory remission 5 years post-HSCT. |
publishDate |
2023 |
dc.date.none.fl_str_mv |
2023-03 |
dc.type.none.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion http://purl.org/coar/resource_type/c_6501 info:ar-repo/semantics/articulo |
format |
article |
status_str |
publishedVersion |
dc.identifier.none.fl_str_mv |
http://hdl.handle.net/11336/227287 Caldirola, Maria Soledad; Seminario, Analia Gisela; Luna, Paula Carolina; Curciarello, Renata; Docena, Guillermo H.; et al.; Case report: De novo SAMD9L truncation causes neonatal-onset autoinflammatory syndrome which was successfully treated with hematopoietic stem cell transplantation; Frontiers Media; Frontiers in Pediatrics; 11; 3-2023; 1-6 2296-2360 CONICET Digital CONICET |
url |
http://hdl.handle.net/11336/227287 |
identifier_str_mv |
Caldirola, Maria Soledad; Seminario, Analia Gisela; Luna, Paula Carolina; Curciarello, Renata; Docena, Guillermo H.; et al.; Case report: De novo SAMD9L truncation causes neonatal-onset autoinflammatory syndrome which was successfully treated with hematopoietic stem cell transplantation; Frontiers Media; Frontiers in Pediatrics; 11; 3-2023; 1-6 2296-2360 CONICET Digital CONICET |
dc.language.none.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
info:eu-repo/semantics/altIdentifier/url/https://www.frontiersin.org/articles/10.3389/fped.2023.1108207/full info:eu-repo/semantics/altIdentifier/doi/10.3389/fped.2023.1108207 |
dc.rights.none.fl_str_mv |
info:eu-repo/semantics/openAccess https://creativecommons.org/licenses/by/2.5/ar/ |
eu_rights_str_mv |
openAccess |
rights_invalid_str_mv |
https://creativecommons.org/licenses/by/2.5/ar/ |
dc.format.none.fl_str_mv |
application/pdf application/pdf application/pdf |
dc.publisher.none.fl_str_mv |
Frontiers Media |
publisher.none.fl_str_mv |
Frontiers Media |
dc.source.none.fl_str_mv |
reponame:CONICET Digital (CONICET) instname:Consejo Nacional de Investigaciones Científicas y Técnicas |
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CONICET Digital (CONICET) |
collection |
CONICET Digital (CONICET) |
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Consejo Nacional de Investigaciones Científicas y Técnicas |
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CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas |
repository.mail.fl_str_mv |
dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar |
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13.070432 |