Lista de obras -

A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency

artículo científico publicado en 2012

Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors.

artículo científico publicado en 2018

Ancient familial Mediterranean fever mutations in human pyrin and resistance to Yersinia pestis

scientific article published on 29 June 2020

Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease

scientific journal article

Brief Report: Cryopyrin-Associated Periodic Syndrome Caused by a Myeloid-Restricted Somatic NLRP3 Mutation

artículo científico publicado en 2015

Brief Report: Deficiency of Complement 1r Subcomponent in Early-Onset Systemic Lupus Erythematosus: The Role of Disease-Modifying Alleles in a Monogenic Disease

artículo científico publicado en 2017

Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance

scientific article published on 08 July 2020

Deficiency of adenosine deaminase 2 triggers adenosine-mediated NETosis and TNF production in patients with DADA2

scientific article published on 23 April 2019

Dysregulated neutrophil responses and neutrophil extracellular trap formation and degradation in PAPA syndrome

scientific article published on 21 August 2018

Early-onset stroke and vasculopathy associated with mutations in ADA2

artículo científico publicado en 2014

Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease

artículo científico publicado en 2015

Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease

scientific article published on 11 December 2019

Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part one

article

TRNT1 missense mutations define an autoinflammatory disease characterized by recurrent fever, severe anemia, and b-cell immunodeficiency