Kosuke Noma

Hiroshima, Japan

Last Updated: 09/26/2026

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Found 16 publications

The Co-Occurrence of Low-Frequency Pathogenic Variants in TBXA2R Exacerbating the Hemorrhagic Symptoms in Siblings with Hemophilia B.

The Co-Occurrence of Low-Frequency Pathogenic Variants in TBXA2R Exacerbating the Hemorrhagic Symptoms in Siblings with Hemophilia B.

Journal: Seminars in thrombosis and hemostasis
Published: April 17, 2025

Anti-cytokine autoantibodies in human susceptibility to infectious diseases: insights from Inborn errors of immunity.

Anti-cytokine autoantibodies in human susceptibility to infectious diseases: insights from Inborn errors of immunity.

Journal: Immunological medicine
Published: April 08, 2025

X-linked severe combined immunodeficiency with Down syndrome identified by newborn screening.

X-linked severe combined immunodeficiency with Down syndrome identified by newborn screening.

Journal: Journal of human immunity
Published: April 07, 2025

Fine mapping of heterozygous IL6ST nonsense variants underlying autosomal dominant hyper-IgE syndrome.

Fine mapping of heterozygous IL6ST nonsense variants underlying autosomal dominant hyper-IgE syndrome.

Journal: JCI insight
Published: December 17, 2024

Correction to: Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency.

Correction to: Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency.

Journal: Journal of clinical immunology
Published: August 14, 2024

18q Deletion Syndrome Presenting with Late-Onset Combined Immunodeficiency.

18q Deletion Syndrome Presenting with Late-Onset Combined Immunodeficiency.

Journal: Journal of clinical immunology
Published: March 09, 2024

Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency.

Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency.

Journal: Journal of clinical immunology
Published: February 02, 2024

Human STAT1 gain of function with chronic mucocutaneous candidiasis: A comprehensive review for strengthening the connection between bedside observations and laboratory research.

Human STAT1 gain of function with chronic mucocutaneous candidiasis: A comprehensive review for strengthening the connection between bedside observations and laboratory research.

Journal: Immunological reviews
Published: September 27, 2023

Isolated chronic mucocutaneous candidiasis due to a novel duplication variant of IL17RC.

Isolated chronic mucocutaneous candidiasis due to a novel duplication variant of IL17RC.

Journal: Research square
Published: August 14, 2023

Isolated Chronic Mucocutaneous Candidiasis due to a Novel Duplication Variant of IL17RC.

Isolated Chronic Mucocutaneous Candidiasis due to a Novel Duplication Variant of IL17RC.

Journal: Journal of clinical immunology
Published: June 17, 2023

Case Report: Molecular autopsy underlie COVID-19-associated sudden, unexplained child mortality.

Case Report: Molecular autopsy underlie COVID-19-associated sudden, unexplained child mortality.

Journal: Frontiers in immunology
Published: December 11, 2022

A complementary approach for genetic diagnosis of inborn errors of immunity using proteogenomic analysis.

A complementary approach for genetic diagnosis of inborn errors of immunity using proteogenomic analysis.

Journal: PNAS nexus
Published: November 20, 2022
Showing 1-12 of 16

Last Updated: 09/26/2026