| Title: |
Case report: De novo SAMD9L truncation causes neonatal-onset autoinflammatory syndrome which was successfully treated with hematopoietic stem cell transplantation |
| Authors: |
María Soledad Caldirola, Analía Gisela Seminario, Paula Carolina Luna, Renata Curciarello, Guillermo Horacio Docena, Nicolás Fernandez Escobar, Guillermo Drelichman, Marco Gattorno, Adriana A. de Jesus, Raphaela Goldbach-Mansky, María Isabel Gaillard, Liliana Bezrodnik |
| Source: |
Frontiers in Pediatrics, Vol 11 (2023) |
| Publisher Information: |
Frontiers Media S.A., 2023. |
| Publication Year: |
2023 |
| Collection: |
LCC:Pediatrics |
| Subject Terms: |
autoinflammatory syndromes, CANDLE-like syndrome, primary immunodeficiencies, SAMD9L, sterile alpha motif domain containing 9 like, case report, Pediatrics, RJ1-570 |
| More Details: |
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. |
| Document Type: |
article |
| File Description: |
electronic resource |
| Language: |
English |
| ISSN: |
2296-2360 |
| Relation: |
https://www.frontiersin.org/articles/10.3389/fped.2023.1108207/full; https://doaj.org/toc/2296-2360 |
| DOI: |
10.3389/fped.2023.1108207 |
| Access URL: |
https://doaj.org/article/1e09ec066fed437aa375975f59a10023 |
| Accession Number: |
edsdoj.1e09ec066fed437aa375975f59a10023 |
| Database: |
Directory of Open Access Journals |
