Case report: De novo SAMD9L truncation causes neonatal-onset autoinflammatory syndrome which was successfully treated with hematopoietic stem cell transplantation

Autores
Caldirola, María Soledad; Seminario, Analía Gisela; Luna, Paula Carolina; Curciarello, Renata; Docena, Guillermo Horacio; Fernández Escobar, Nicolás; Drelichman, Guillermo; Gattorno, Marco; de Jesús, 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.
Instituto de Estudios Inmunológicos y Fisiopatológicos
Materia
Ciencias Médicas
Autoinflammatory syndromes
CANDLE-like syndrome
Primary immunodeficiencies
SAMD9L
Sterile alpha motif domain containing 9 like
Case report
Nivel de accesibilidad
acceso abierto
Condiciones de uso
http://creativecommons.org/licenses/by/4.0/
Repositorio
SEDICI (UNLP)
Institución
Universidad Nacional de La Plata
OAI Identificador
oai:sedici.unlp.edu.ar:10915/152347

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network_name_str SEDICI (UNLP)
spelling Case report: De novo SAMD9L truncation causes neonatal-onset autoinflammatory syndrome which was successfully treated with hematopoietic stem cell transplantationCaldirola, María SoledadSeminario, Analía GiselaLuna, Paula CarolinaCurciarello, RenataDocena, Guillermo HoracioFernández Escobar, NicolásDrelichman, GuillermoGattorno, Marcode Jesús, Adriana A.Goldbach-Mansky, RaphaelaGaillard, María IsabelBezrodnik, LilianaCiencias MédicasAutoinflammatory syndromesCANDLE-like syndromePrimary immunodeficienciesSAMD9LSterile alpha motif domain containing 9 likeCase reportDuring 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.Instituto de Estudios Inmunológicos y Fisiopatológicos2023info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionArticulohttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfhttp://sedici.unlp.edu.ar/handle/10915/152347enginfo:eu-repo/semantics/altIdentifier/issn/2296-2360info:eu-repo/semantics/altIdentifier/doi/10.3389/fped.2023.1108207info:eu-repo/semantics/openAccesshttp://creativecommons.org/licenses/by/4.0/Creative Commons Attribution 4.0 International (CC BY 4.0)reponame:SEDICI (UNLP)instname:Universidad Nacional de La Platainstacron:UNLP2025-09-29T11:39:17Zoai:sedici.unlp.edu.ar:10915/152347Institucionalhttp://sedici.unlp.edu.ar/Universidad públicaNo correspondehttp://sedici.unlp.edu.ar/oai/snrdalira@sedici.unlp.edu.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:13292025-09-29 11:39:17.74SEDICI (UNLP) - Universidad Nacional de La Platafalse
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, María Soledad
Ciencias Médicas
Autoinflammatory syndromes
CANDLE-like syndrome
Primary immunodeficiencies
SAMD9L
Sterile alpha motif domain containing 9 like
Case report
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, María Soledad
Seminario, Analía Gisela
Luna, Paula Carolina
Curciarello, Renata
Docena, Guillermo Horacio
Fernández Escobar, Nicolás
Drelichman, Guillermo
Gattorno, Marco
de Jesús, Adriana A.
Goldbach-Mansky, Raphaela
Gaillard, María Isabel
Bezrodnik, Liliana
author Caldirola, María Soledad
author_facet Caldirola, María Soledad
Seminario, Analía Gisela
Luna, Paula Carolina
Curciarello, Renata
Docena, Guillermo Horacio
Fernández Escobar, Nicolás
Drelichman, Guillermo
Gattorno, Marco
de Jesús, Adriana A.
Goldbach-Mansky, Raphaela
Gaillard, María Isabel
Bezrodnik, Liliana
author_role author
author2 Seminario, Analía Gisela
Luna, Paula Carolina
Curciarello, Renata
Docena, Guillermo Horacio
Fernández Escobar, Nicolás
Drelichman, Guillermo
Gattorno, Marco
de Jesús, 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 Ciencias Médicas
Autoinflammatory syndromes
CANDLE-like syndrome
Primary immunodeficiencies
SAMD9L
Sterile alpha motif domain containing 9 like
Case report
topic Ciencias Médicas
Autoinflammatory syndromes
CANDLE-like syndrome
Primary immunodeficiencies
SAMD9L
Sterile alpha motif domain containing 9 like
Case report
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.
Instituto de Estudios Inmunológicos y Fisiopatológicos
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
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
Articulo
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info:ar-repo/semantics/articulo
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status_str publishedVersion
dc.identifier.none.fl_str_mv http://sedici.unlp.edu.ar/handle/10915/152347
url http://sedici.unlp.edu.ar/handle/10915/152347
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/issn/2296-2360
info:eu-repo/semantics/altIdentifier/doi/10.3389/fped.2023.1108207
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
http://creativecommons.org/licenses/by/4.0/
Creative Commons Attribution 4.0 International (CC BY 4.0)
eu_rights_str_mv openAccess
rights_invalid_str_mv http://creativecommons.org/licenses/by/4.0/
Creative Commons Attribution 4.0 International (CC BY 4.0)
dc.format.none.fl_str_mv application/pdf
dc.source.none.fl_str_mv reponame:SEDICI (UNLP)
instname:Universidad Nacional de La Plata
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reponame_str SEDICI (UNLP)
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instname_str Universidad Nacional de La Plata
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repository.name.fl_str_mv SEDICI (UNLP) - Universidad Nacional de La Plata
repository.mail.fl_str_mv alira@sedici.unlp.edu.ar
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