Case report: De novo SAMD9L truncation causes neonatal-onset autoinflammatory syndrome which was successfully treated with hematopoietic stem cell transplantation
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. Earl...
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2023
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| Acceso en línea: | http://sedici.unlp.edu.ar/handle/10915/152347 |
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I19-R120-10915-1523472023-05-02T20:07:30Z http://sedici.unlp.edu.ar/handle/10915/152347 issn:2296-2360 Case report: De novo SAMD9L truncation causes neonatal-onset autoinflammatory syndrome which was successfully treated with hematopoietic stem cell transplantation 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 2023 2023-05-02T16:37:26Z en Ciencias Médicas Autoinflammatory syndromes CANDLE-like syndrome Primary immunodeficiencies SAMD9L Sterile alpha motif domain containing 9 like Case report 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 Articulo Articulo http://creativecommons.org/licenses/by/4.0/ Creative Commons Attribution 4.0 International (CC BY 4.0) application/pdf |
| institution |
Universidad Nacional de La Plata |
| institution_str |
I-19 |
| repository_str |
R-120 |
| collection |
SEDICI (UNLP) |
| language |
Inglés |
| topic |
Ciencias Médicas Autoinflammatory syndromes CANDLE-like syndrome Primary immunodeficiencies SAMD9L Sterile alpha motif domain containing 9 like Case report |
| spellingShingle |
Ciencias Médicas Autoinflammatory syndromes CANDLE-like syndrome Primary immunodeficiencies SAMD9L Sterile alpha motif domain containing 9 like Case report 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 Case report: De novo SAMD9L truncation causes neonatal-onset autoinflammatory syndrome which was successfully treated with hematopoietic stem cell transplantation |
| topic_facet |
Ciencias Médicas Autoinflammatory syndromes CANDLE-like syndrome Primary immunodeficiencies SAMD9L Sterile alpha motif domain containing 9 like Case report |
| 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. |
| format |
Articulo Articulo |
| author |
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_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_sort |
Caldirola, María Soledad |
| title |
Case report: De novo SAMD9L truncation causes neonatal-onset autoinflammatory syndrome which was successfully treated with hematopoietic stem cell transplantation |
| 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 |
| publishDate |
2023 |
| url |
http://sedici.unlp.edu.ar/handle/10915/152347 |
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