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List of works by Miyuki Tsumura

A Patient with CTLA-4 Haploinsufficiency Presenting Gastric Cancer

scientific article

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

scientific article published on 21 June 2021

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

scientific article published on 14 December 2016

Autosomal recessive complete STAT1 deficiency caused by compound heterozygous intronic mutations

scientific article published on 30 June 2020

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

scientific article published on 7 June 2012

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

scientific article

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

scientific article published on 20 October 2020

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

scientific article published in February 2018

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

scientific article

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

scientific article published on 28 July 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

scientific article published on 16 December 2013

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

scientific article published on 16 May 2022

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