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...
| Main Authors: | , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2023-03-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2023.1108207/full |
| _version_ | 1811155399996342272 |
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| author | María Soledad Caldirola María Soledad Caldirola Analía Gisela Seminario 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 María Isabel Gaillard Liliana Bezrodnik |
| author_facet | María Soledad Caldirola María Soledad Caldirola Analía Gisela Seminario 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 María Isabel Gaillard Liliana Bezrodnik |
| author_sort | María Soledad Caldirola |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-04-10T04:33:35Z |
| format | Article |
| id | doaj.art-1e09ec066fed437aa375975f59a10023 |
| institution | Directory Open Access Journal |
| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-04-10T04:33:35Z |
| publishDate | 2023-03-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj.art-1e09ec066fed437aa375975f59a100232023-03-10T05:07:30ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602023-03-011110.3389/fped.2023.11082071108207Case report: De novo SAMD9L truncation causes neonatal-onset autoinflammatory syndrome which was successfully treated with hematopoietic stem cell transplantationMaría Soledad Caldirola0María Soledad Caldirola1Analía Gisela Seminario2Analía Gisela Seminario3Paula Carolina Luna4Renata Curciarello5Guillermo Horacio Docena6Nicolás Fernandez Escobar7Guillermo Drelichman8Marco Gattorno9Adriana A. de Jesus10Raphaela Goldbach-Mansky11María Isabel Gaillard12María Isabel Gaillard13Liliana Bezrodnik14Servicio de Inmunología, “Hospital de Niños “Dr. Ricardo Gutiérrez,”Buenos Aires, ArgentinaInstituto Multidisciplinario de Investigaciones en Patologías Pediátricas (IMIPP-CONICET-GCBA), Buenos Aires, ArgentinaServicio de Inmunología, “Hospital de Niños “Dr. Ricardo Gutiérrez,”Buenos Aires, ArgentinaCentro de Inmunología Clínica Dra. Bezrodnik y equipo, Buenos Aires, ArgentinaServicio de Dermatología, Hospital Alemán, Buenos Aires, ArgentinaInstituto de Estudios Inmunológicos y Fisiopatológicos (IIFP)-CONICET-UNLP, Dto. de Cs Biológicas, Facultad de Ciencias Exactas, La Plata, Buenos Aires, ArgentinaInstituto de Estudios Inmunológicos y Fisiopatológicos (IIFP)-CONICET-UNLP, Dto. de Cs Biológicas, Facultad de Ciencias Exactas, La Plata, Buenos Aires, ArgentinaUnidad de Trasplante de Médula Ósea-Fundación Favaloro, Buenos Aires, ArgentinaUnidad de Trasplante de Médula Ósea-Fundación Favaloro, Buenos Aires, ArgentinaUOC Reumatologia e Malattie Autoinfiammatorie, IRCCS Istituto Giannina Gaslini, Genova, ItalyTranslational Autoinflammatory Diseases Section, NIAID/NIH, Bethesda, MD, United StatesTranslational Autoinflammatory Diseases Section, NIAID/NIH, Bethesda, MD, United StatesServicio de Inmunología, “Hospital de Niños “Dr. Ricardo Gutiérrez,”Buenos Aires, ArgentinaSección Citometría-Laboratorio Stamboulian, Buenos Aires, ArgentinaCentro de Inmunología Clínica Dra. Bezrodnik y equipo, Buenos Aires, ArgentinaDuring 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.https://www.frontiersin.org/articles/10.3389/fped.2023.1108207/fullautoinflammatory syndromesCANDLE-like syndromeprimary immunodeficienciesSAMD9Lsterile alpha motif domain containing 9 likecase report |
| spellingShingle | María Soledad Caldirola María Soledad Caldirola Analía Gisela Seminario 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 María Isabel Gaillard Liliana Bezrodnik Case report: De novo SAMD9L truncation causes neonatal-onset autoinflammatory syndrome which was successfully treated with hematopoietic stem cell transplantation Frontiers in Pediatrics autoinflammatory syndromes CANDLE-like syndrome primary immunodeficiencies SAMD9L sterile alpha motif domain containing 9 like case report |
| 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 | autoinflammatory syndromes CANDLE-like syndrome primary immunodeficiencies SAMD9L sterile alpha motif domain containing 9 like case report |
| url | https://www.frontiersin.org/articles/10.3389/fped.2023.1108207/full |
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