Search filters

List of works by Patrycja M Hoffmann

A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease

scientific article published on 9 January 2018

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

scientific article published on 29 June 2020

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

scientific article

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

scientific article published on 23 May 2017

Connecting two pathways through Ca 2+ signaling: NLRP3 inflammasome activation induced by a hypermorphic PLCG2 mutation

scientific article

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

scientific article published on 08 July 2020

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

scientific article

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

scientific article published on 7 December 2015

Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease

scientific article published on 11 December 2019

Second Case of HOIP Deficiency Expands Clinical Features and Defines Inflammatory Transcriptome Regulated by LUBAC

article by Hirotsugu Oda et al published 2019 in Frontiers in Immunology

Treatment Strategies for Deficiency of Adenosine Deaminase 2

scientific article published on 01 April 2019

Type I interferon signature predicts response to JAK inhibition in haploinsufficiency of A20

scientific article published on 25 November 2019

Paulina is supported by:

About Paulina

Help