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

Martín‐Nalda, Andrea; Fortuny, Clàudia; Rey, Lourdes; D. Bunney, Tom; Alsina, Laia; Esteve‐Solé, Ana; N. Bull, Daniel; Carmen Anton, Maria; Basagaña, María; Casals, Ferrán; Deyà‐Martínez, Àngela; García-Prat, Marina; Gimeno, Ramón; Juan, Manel; Martínez‐Banaclocha, Helios; José Martínez-García, Juan; Mensa‐Vilaró, Anna; Rabionet, Raquel; Martín Begué, Nieves; Rudilla, Francesc; Yagüe, Jordi; Estivill, Xavier; García‐Patos, Vicente; M. Pujol, Ramón; Soler‐Palacín, Pere; Katan, Matilda; Pelegrı́n, Pablo; Colobrán, Roger; Vicente, A.; I. Aróstegui, Juan

doi:10.1007/s10875-020-00794-7

Public

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

Published in Journal of Clinical Immunology • Jul 15, 2020

Authors:

Andrea Martín‐Nalda

Clàudia Fortuny

Lourdes Rey

Abstract

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 vasculopat...

Subject

Immunology

Inflammasome

Antibody

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