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A Patient with CTLA-4 Haploinsufficiency Presenting Gastric Cancer

artículo científico publicado en 2015

A variant in human AIOLOS impairs adaptive immunity by interfering with IKAROS

artículo científico publicado en 2021

Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants.

artículo científico publicado en 2016

Autosomal recessive complete STAT1 deficiency caused by compound heterozygous intronic mutations

artículo científico publicado en 2020

Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease

artículo científico publicado en 2012

Enhanced AKT Phosphorylation of Circulating B Cells in Patients With Activated PI3Kδ Syndrome.

artículo científico publicado en 2018

Heterozygosity for the Y701C STAT1 mutation in a multiplex kindred with multifocal osteomyelitis

scientific article published on 12 April 2013

IRAK4 Deficiency Presenting with Anti-NMDAR Encephalitis and HHV6 Reactivation

artículo científico publicado en 2020

Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection

artículo científico publicado en 2018

Naive and memory human B cells have distinct requirements for STAT3 activation to differentiate into antibody-secreting plasma cells.

artículo científico publicado en 2013

Ruxolitinib Response in an Infant with Very-Early-Onset Inflammatory Bowel Disease and Gain-of-Function STAT1 Mutation

artículo científico publicado en 2020

Signal transducer and activator of transcription 3 (STAT3) mutations underlying autosomal dominant hyper-IgE syndrome impair human CD8(+) T-cell memory formation and function.

scientific article published on 04 July 2013

Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis

artículo científico publicado en 2013

The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies

artículo científico publicado en 2022

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