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List of works by Joshua D Milner

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

scientific article

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

scientific article

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

scientific article published on 11 January 2012

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

scientific article

Early-onset stroke and vasculopathy associated with mutations in ADA2

scientific article

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

scientific article published on 23 July 2019

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

scientific article published on 01 March 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

scientific article published on 7 December 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

scientific article published on 14 July 2017

Primary atopic disorders.

scientific article published on 16 March 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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