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
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/227287
Acceder
id CONICETDig_df4bc3494f6bd3f3e35f89d07c35215c
oai_identifier_str oai:ri.conicet.gov.ar:11336/227287
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str 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 Técnicas2025-10-22T12:10:53Zoai: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:34982025-10-22 12:10:54.265CONICET 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
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv 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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score 12.982451

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