Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations.

doi:10.1007/s10875-020-00794-7

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Article

Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations.

Journal of clinical immunology - 1 Oct 2020

Martín-Nalda Andrea, Fortuny Claudia, Rey Lourdes, Bunney Tom D, Alsina Laia, Esteve-Solé Ana, Bull Daniel, Anton Maria Carmen, Basagaña María, Casals Ferran, Deyá Angela, García-Prat Marina, Gimeno Ramon, Juan Manel, Martinez-Banaclocha Helios, Martinez-Garcia Juan J, Mensa-Vilaró Anna, Rabionet Raquel, Martin-Begue Nieves, Rudilla Francesc, Yagüe Jordi, Estivill Xavier, García-Patos Vicente, Pujol Ramon M, Soler-Palacín Pere, Katan Matilda, Pelegrín Pablo, Colobran Roger, Vicente Asun, Arostegui Juan I

Abstract excerpt

Autoinflammatory diseases (AIDs) were first described as clinical disorders characterized by recurrent episodes of seemingly unprovoked sterile inflammation. In the past few years, the identification of novel AIDs expanded their phenotypes toward more complex clinical pictures associating vasculopathy, autoimmunity, or immunodeficiency. Herein, we describe two unrelated patients suffering since the neonatal...

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Identifiers

PMID: 32671674
DOI: 10.1007/s10875-020-00794-7
PMCID: PMC7505877

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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