Mathieu Fusaro

Toulouse, France

Last Updated: 09/26/2026

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Found 38 publications

The private truncating Toll-like receptor 7 p.Glu834* variant associates with juvenile-onset systemic lupus erythematosus and pathological cytokine expression in vitro.

The private truncating Toll-like receptor 7 p.Glu834* variant associates with juvenile-onset systemic lupus erythematosus and pathological cytokine expression in vitro.

Journal: Annals of the rheumatic diseases

Published: March 20, 2026

A symposium update on the key perspectives in systemic sclerosis and systemic lupus erythematosus.

A symposium update on the key perspectives in systemic sclerosis and systemic lupus erythematosus.

Journal: Journal of translational autoimmunity

Published: March 12, 2026

Paediatric-onset autoimmune cytopenia: How can we reduce the long-term mortality?

Paediatric-onset autoimmune cytopenia: How can we reduce the long-term mortality?

Journal: British journal of haematology

Published: March 11, 2026

From a novel pathogenic SAMD9L variant to cohort-wide insights: Whole-genome sequencing highlights somatic genetic rescue and phenotypic heterogeneity.

From a novel pathogenic SAMD9L variant to cohort-wide insights: Whole-genome sequencing highlights somatic genetic rescue and phenotypic heterogeneity.

Journal: British journal of haematology

Published: March 05, 2026

Intronic branchpoint-to-acceptor variants underlying inborn errors of immunity.

Intronic branchpoint-to-acceptor variants underlying inborn errors of immunity.

Journal: Journal of human immunity

Published: December 15, 2025

Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diverse than assumed.

Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diverse than assumed.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 01, 2025

Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.

Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 01, 2025

Common Toll-like receptor 7 variants define disease risk and phenotypes in juvenile-onset systemic lupus erythematosus.

Common Toll-like receptor 7 variants define disease risk and phenotypes in juvenile-onset systemic lupus erythematosus.

Journal: Journal of autoimmunity

Published: April 22, 2025

Mechanisms underlying skin inflammation of DOCK8 deficiency.

Mechanisms underlying skin inflammation of DOCK8 deficiency.

Journal: The Journal of allergy and clinical immunology

Published: February 27, 2024

Type I interferon associated epistasis may contribute to early disease-onset and high disease activity in juvenile-onset lupus.

Type I interferon associated epistasis may contribute to early disease-onset and high disease activity in juvenile-onset lupus.

Journal: Clinical immunology (Orlando, Fla.)

Published: December 04, 2023

A large deletion in a non-coding regulatory region leads to NFKB1 haploinsufficiency in two adult siblings.

A large deletion in a non-coding regulatory region leads to NFKB1 haploinsufficiency in two adult siblings.

Journal: Clinical immunology (Orlando, Fla.)

Published: October 10, 2023

A New Patient with p40phox Deficiency and Chronic Immune Thrombocytopenia.

A New Patient with p40phox Deficiency and Chronic Immune Thrombocytopenia.

Journal: Journal of clinical immunology

Published: February 16, 2023

Showing 1-12 of 38

Last Updated: 09/26/2026