William Piterboth

Paris, 75012, France

Last Updated: 09/26/2026

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Found 12 publications

Somatic Mosaic NLRC4 Variants in Autoinflammatory Diseases: Functional Characterization and Correlation of Mosaicism Levels with Disease Age of Onset and Severity.

Somatic Mosaic NLRC4 Variants in Autoinflammatory Diseases: Functional Characterization and Correlation of Mosaicism Levels with Disease Age of Onset and Severity.

Journal: Journal of clinical immunology

Published: November 05, 2024

Low-level NLRP3 mosaicism in chronic urticarial lesions: extending the phenotypic spectrum of NLRP3-related disorders and therapeutic implications.

Low-level NLRP3 mosaicism in chronic urticarial lesions: extending the phenotypic spectrum of NLRP3-related disorders and therapeutic implications.

Journal: The British journal of dermatology

Published: November 04, 2024

A critical region of A20 unveiled by missense TNFAIP3 variations that lead to autoinflammation.

A critical region of A20 unveiled by missense TNFAIP3 variations that lead to autoinflammation.

Journal: eLife

Published: June 22, 2022

De Novo Gain-Of-Function Variations in LYN Associated With an Early-Onset Systemic Autoinflammatory Disorder.

De Novo Gain-Of-Function Variations in LYN Associated With an Early-Onset Systemic Autoinflammatory Disorder.

Journal: Arthritis & rheumatology (Hoboken, N.J.)

Published: March 10, 2022

Mosaic variants in TNFRSF1A: an emerging cause of tumour necrosis factor receptor-associated periodic syndrome.

Mosaic variants in TNFRSF1A: an emerging cause of tumour necrosis factor receptor-associated periodic syndrome.

Journal: Rheumatology (Oxford, England)

Published: January 13, 2022

RNF213-associated urticarial lesions with hypercytokinemia.

RNF213-associated urticarial lesions with hypercytokinemia.

Journal: The Journal of allergy and clinical immunology

Published: November 16, 2021

The NLRP3 p.A441V Mutation in NLRP3-AID Pathogenesis: Functional Consequences, Phenotype-Genotype Correlations and Evidence for a Recurrent Mutational Event.

The NLRP3 p.A441V Mutation in NLRP3-AID Pathogenesis: Functional Consequences, Phenotype-Genotype Correlations and Evidence for a Recurrent Mutational Event.

Journal: ACR open rheumatology

Published: November 29, 2019

NLRP3-associated autoinflammatory diseases: Phenotypic and molecular characteristics of germline versus somatic mutations.

NLRP3-associated autoinflammatory diseases: Phenotypic and molecular characteristics of germline versus somatic mutations.

Journal: The Journal of allergy and clinical immunology

Published: September 24, 2019

Somatic Mosaic NLRP3 Mutations and Inflammasome Activation in Late-Onset Chronic Urticaria.

Somatic Mosaic NLRP3 Mutations and Inflammasome Activation in Late-Onset Chronic Urticaria.

Journal: The Journal of investigative dermatology

Published: March 05, 2019

Impact of human monocyte and macrophage polarization on NLR expression and NLRP3 inflammasome activation.

Impact of human monocyte and macrophage polarization on NLR expression and NLRP3 inflammasome activation.

Journal: PloS one

Published: December 13, 2016

Molecular screening of a large cohort of Moroccan patients with congenital hypopituitarism.

Molecular screening of a large cohort of Moroccan patients with congenital hypopituitarism.

Journal: Clinical endocrinology

Published: September 18, 2014

Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.

Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.

Journal: American journal of human genetics

Published: May 13, 2013

Showing 1-12 of 12

Last Updated: 09/26/2026