Biblio

Author Title [ Type(Asc)] Year
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Journal Article
Pietrasanta C, Minoia F, Torreggiani S, Ronchi A, Gattorno M, Volpi S, Ceccherini I, Mosca F, Filocamo G, Pugni L. When neonatal inflammation does not mean infection: An early-onset mevalonate kinase deficiency with interstitial lung disease. Clin Immunol. 2019.
Gerritsma AM, Sutera D, Cantarini L, Cattalini M, Lachmann HJ, Minden K, Jansson AF, Touitou I, Bustaffa M, Antón J, et al. 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.
Papa R, Rusmini M, Volpi S, Dell'Orso G, Giarratana MCarla, Caorsi R, Giardino S, Bocca P, Barone P, Severino M, et al. Progression of non-hematologic manifestations in SAMD9L-associated autoinflammatory disease (SAAD) after hematopoietic stem cell transplantation. Pediatr Allergy Immunol. 2021.
Shinar Y, Ceccherini I, Rowczenio D, Aksentijevich I, Arostegui J, Ben-Chétrit E, Boursier G, Gattorno M, Hayrapetyan H, Ida H, et al. ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era. Clin Chem. 2020.
Haimel M, Pazmandi J, Heredia RJiménez, Dmytrus J, Bal SKöstel, Zoghi S, van Daele P, Briggs TA, Wouters C, Bader-Meunier B, et al. Curation and Expansion of Human Phenotype Ontology for Defined Groups of Inborn Errors of Immunity. J Allergy Clin Immunol. 2021.