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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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Autores principales: Caldirola, María Soledad, Seminario, Analía Gisela, Luna, Paula Carolina, Curciarello, Renata, Docena, Guillermo Horacio, Fernandez Escobar, Nicolás, Drelichman, Guillermo, Gattorno, Marco, de Jesus, Adriana A., Goldbach-Mansky, Raphaela, Gaillard, María Isabel, Bezrodnik, Liliana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10036571/
https://www.ncbi.nlm.nih.gov/pubmed/36969289
http://dx.doi.org/10.3389/fped.2023.1108207
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author Caldirola, María Soledad
Seminario, Analía Gisela
Luna, Paula Carolina
Curciarello, Renata
Docena, Guillermo Horacio
Fernandez Escobar, Nicolás
Drelichman, Guillermo
Gattorno, Marco
de Jesus, 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
Fernandez Escobar, Nicolás
Drelichman, Guillermo
Gattorno, Marco
de Jesus, Adriana A.
Goldbach-Mansky, Raphaela
Gaillard, María Isabel
Bezrodnik, Liliana
author_sort Caldirola, María Soledad
collection PubMed
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.
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spelling pubmed-100365712023-03-25 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 Fernandez Escobar, Nicolás Drelichman, Guillermo Gattorno, Marco de Jesus, Adriana A. Goldbach-Mansky, Raphaela Gaillard, María Isabel Bezrodnik, Liliana Front Pediatr Pediatrics 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. Frontiers Media S.A. 2023-03-10 /pmc/articles/PMC10036571/ /pubmed/36969289 http://dx.doi.org/10.3389/fped.2023.1108207 Text en © 2023 Caldirola, Seminario, Luna, Curciarello, Docena, Fernandez Escobar, Drelichman, Gattorno, de Jesus, Goldbach-Mansky, Gaillard and Bezrodnik. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY) (https://creativecommons.org/licenses/by/4.0/) . The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Pediatrics
Caldirola, María Soledad
Seminario, Analía Gisela
Luna, Paula Carolina
Curciarello, Renata
Docena, Guillermo Horacio
Fernandez Escobar, Nicolás
Drelichman, Guillermo
Gattorno, Marco
de Jesus, 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
title 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_short 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
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10036571/
https://www.ncbi.nlm.nih.gov/pubmed/36969289
http://dx.doi.org/10.3389/fped.2023.1108207
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