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Article

Cardiac valve involvement in ADAR-related type I interferonopathy.

Journal of medical genetics - 1 Jul 2020

Crow Yanick, Keshavan Nandaki, Barbet Jacques Patrick, Bercu Geanina, Bondet Vincent, Boussard Charlotte, Dedieu Nathalie, Duffy Darragh, Hully Marie, Giardini Alessandro, Gitiaux Cyril, Rice Gillian Inara, Seabra Luis, Bader-Meunier Brigitte, Rahman Shamima

Abstract excerpt

BACKGROUND: Adenosine deaminases acting on RNA (ADAR) mutations cause a spectrum of neurological phenotypes ranging from severe encephalopathy (Aicardi-Goutières syndrome) to isolated spastic paraplegia and are associated with enhanced type I interferon signalling. In children, non-neurological involvement in the type I interferonopathies includes autoimmune and rheumatological phenomena, with calcifying cardiac...

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Source

Identifiers

PMID: 31772029
DOI: 10.1136/jmedgenet-2019-106457

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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