Biblio
When neonatal inflammation does not mean infection: An early-onset mevalonate kinase deficiency with interstitial lung disease. Clin Immunol. 2019.
. TNRSF1A-pR92Q variant identifies a subset of patients more similar to systemic undifferentiated recurrent fever than TNF receptor-associated periodic syndrome. Clin Exp Rheumatol. 2023.
Progression of non-hematologic manifestations in SAMD9L-associated autoinflammatory disease (SAAD) after hematopoietic stem cell transplantation. Pediatr Allergy Immunol. 2021.
ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era. Clin Chem. 2020.
Curation and Expansion of Human Phenotype Ontology for Defined Groups of Inborn Errors of Immunity. J Allergy Clin Immunol. 2021.