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A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis

artículo científico publicado en 2017

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

artículo científico publicado en 2012

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

scientific journal article

Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions

artículo científico publicado en 2012

ERBIN deficiency links STAT3 and TGF-β pathway defects with atopy in humans.

artículo científico publicado en 2017

Early-onset stroke and vasculopathy associated with mutations in ADA2

artículo científico publicado en 2014

Impact of naturally forming human α/β-tryptase heterotetramers in the pathogenesis of hereditary α-tryptasemia

artículo científico publicado en 2019

Inherited SLP76 deficiency in humans causes severe combined immunodeficiency, neutrophil and platelet defects

artículo científico publicado en 2021

Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses

scientific article published on 24 June 2019

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

artículo científico publicado en 2015

Novel MALT1 Mutation Linked to Immunodeficiency, Immune Dysregulation, and an Abnormal T Cell Receptor Repertoire

scientific article published on 29 April 2019

PD-L1 up-regulation restrains Th17 cell differentiation in STAT3 loss- and STAT1 gain-of-function patients

artículo científico publicado en 2017

Primary atopic disorders.

artículo científico publicado en 2018

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

scientific article published on 25 November 2019

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