Sonoko Sakata

Hiroshima, Japan

Last Updated: 09/26/2026

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Found 15 publications

Human inherited RORγT deficiency encompasses genetic heterogeneity, T cell deficiency, and clinical homogeneity.

Human inherited RORγT deficiency encompasses genetic heterogeneity, T cell deficiency, and clinical homogeneity.

Journal: medRxiv : the preprint server for health sciences

Published: August 01, 2026

Human-inherited RORγT deficiency encompasses genetic heterogeneity, T cell deficiency, and clinical homogeneity.

Human-inherited RORγT deficiency encompasses genetic heterogeneity, T cell deficiency, and clinical homogeneity.

Journal: The Journal of experimental medicine

Published: October 01, 2025

Two families with TET3-related disorder showing neurodevelopmental delay with craniofacial dysmorphisms.

Two families with TET3-related disorder showing neurodevelopmental delay with craniofacial dysmorphisms.

Journal: Journal of human genetics

Published: August 19, 2021

Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 Deficiency.

Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 Deficiency.

Journal: Journal of immunology (Baltimore, Md. : 1950)

Published: December 30, 2020

Successful Hematopoietic Stem Cell Transplantation for Autosomal Recessive STAT1 Complete Deficiency.

Successful Hematopoietic Stem Cell Transplantation for Autosomal Recessive STAT1 Complete Deficiency.

Journal: Journal of clinical immunology

Published: October 02, 2020

IRAK4 Deficiency Presenting with Anti-NMDAR Encephalitis and HHV6 Reactivation.

IRAK4 Deficiency Presenting with Anti-NMDAR Encephalitis and HHV6 Reactivation.

Journal: Journal of clinical immunology

Published: May 11, 2020

Autosomal recessive complete STAT1 deficiency caused by compound heterozygous intronic mutations.

Autosomal recessive complete STAT1 deficiency caused by compound heterozygous intronic mutations.

Journal: International immunology

Published: May 09, 2020

A Case Report of a Japanese Boy with Morquio A Syndrome: Effects of Enzyme Replacement Therapy Initiated at the Age of 24 Months.

A Case Report of a Japanese Boy with Morquio A Syndrome: Effects of Enzyme Replacement Therapy Initiated at the Age of 24 Months.

Journal: International journal of molecular sciences

Published: December 29, 2019

Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report.

Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report.

Journal: Frontiers in genetics

Published: August 25, 2017

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

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

Journal: Cell

Published: June 09, 2017

Abnormal hematopoiesis and autoimmunity in human subjects with germline IKZF1 mutations.

Abnormal hematopoiesis and autoimmunity in human subjects with germline IKZF1 mutations.

Journal: The Journal of allergy and clinical immunology

Published: April 18, 2016

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

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

Journal: The Journal of allergy and clinical immunology

Published: March 28, 2016

Showing 1-12 of 15

Last Updated: 09/26/2026