Genotype-phenotype correlation in a cohort of pediatric patients with autoinflammatory diseases carrying NOD2 variants
This is the first study to evaluate genotypic/phenotypic characteristics of children with systemic autoinflammatory disease and <i>NOD2</i> variants. The results, albeit preliminary and affected by the sample size, do not allow a definitive conclusion on a monogenic disease caused by mutation in <i>NOD2</i>, with the obvious exception of Blau syndrome. Variants in the NOD domain seem to be associated with a more homogenous clinical phenotype.
Authors
- Chiara Passarelli (ORCID: https://orcid.org/0000-0001-7919-4626)
- Silvia Federici (ORCID: https://orcid.org/0000-0003-0522-5017)
- Emiliano Marasco (ORCID: https://orcid.org/0000-0001-5346-3357)
- Marco Francesco Natale
- Antonella Insalaco (ORCID: https://orcid.org/0000-0003-1443-1840)
- Camilla Celani (ORCID: https://orcid.org/0000-0001-5985-4439)
- Fabrizio De Benedetti
- Chiara Perrone
Institutions
- Bambino Gesù Children's Hospital (IT)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
Publication Details
- Journal
- Frontiers in Immunology
- Published
- 2025-03-24
- DOI
- https://doi.org/10.3389/fimmu.2025.1439333
- Primary Topic
- Inflammasome and immune disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00