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
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- Institución
- Universidad Nacional de La Plata
- OAI Identificador
- oai:sedici.unlp.edu.ar:10915/152347
Ver los metadatos del registro completo
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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:UNLP2025-10-22T17:20:13Zoai: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:13292025-10-22 17:20:13.319SEDICI (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 |
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2023 |
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eng |
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