Nigel Sharfe

Toronto, ON, Canada

Last Updated: 09/26/2026

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Found 12 publications

Autosomal-dominant Roquin-1 immunodeficiency and hyperinflammation.

Autosomal-dominant Roquin-1 immunodeficiency and hyperinflammation.

Journal: The Journal of allergy and clinical immunology

Published: September 27, 2024

Pre-T cell receptor-α immunodeficiency detected exclusively using whole genome sequencing.

Pre-T cell receptor-α immunodeficiency detected exclusively using whole genome sequencing.

Journal: NPJ genomic medicine

Published: July 29, 2024

NFκB pathway dysregulation due to reduced RelB expression leads to severe autoimmune disorders and declining immunity.

NFκB pathway dysregulation due to reduced RelB expression leads to severe autoimmune disorders and declining immunity.

Journal: Journal of autoimmunity

Published: October 18, 2022

Novel immunodeficiency caused by homozygous mutation in solute carrier family 19 member 1, which encodes the reduced folate carrier.

Novel immunodeficiency caused by homozygous mutation in solute carrier family 19 member 1, which encodes the reduced folate carrier.

Journal: Blood

Published: September 08, 2022

Case Report: Eosinophilic Esophagitis in a Patient With a Novel STAT1 Gain-of-Function Pathogenic Variant.

Case Report: Eosinophilic Esophagitis in a Patient With a Novel STAT1 Gain-of-Function Pathogenic Variant.

Journal: Frontiers in immunology

Published: October 25, 2021

Combined immunodeficiency caused by a novel homozygous NFKB1 mutation.

Combined immunodeficiency caused by a novel homozygous NFKB1 mutation.

Journal: The Journal of allergy and clinical immunology

Published: May 18, 2020

Defining the biological responses of IL-6 by the study of a novel IL-6 receptor chain immunodeficiency.

Defining the biological responses of IL-6 by the study of a novel IL-6 receptor chain immunodeficiency.

Journal: The Journal of allergy and clinical immunology

Published: May 09, 2019

Two different STAT1 gain-of-function mutations lead to diverse IFN-γ-mediated gene expression.

Two different STAT1 gain-of-function mutations lead to diverse IFN-γ-mediated gene expression.

Journal: NPJ genomic medicine

Published: March 10, 2018

Combined immunodeficiency and atopy caused by a dominant negative mutation in caspase activation and recruitment domain family member 11 (CARD11).

Combined immunodeficiency and atopy caused by a dominant negative mutation in caspase activation and recruitment domain family member 11 (CARD11).

Journal: The Journal of allergy and clinical immunology

Published: February 20, 2017

Dual loss of p110δ PI3-kinase and SKAP (KNSTRN) expression leads to combined immunodeficiency and multisystem syndromic features.

Dual loss of p110δ PI3-kinase and SKAP (KNSTRN) expression leads to combined immunodeficiency and multisystem syndromic features.

Journal: The Journal of allergy and clinical immunology

Published: December 20, 2016

The effects of RelB deficiency on lymphocyte development and function.

The effects of RelB deficiency on lymphocyte development and function.

Journal: Journal of autoimmunity

Published: July 03, 2015

Fatal combined immunodeficiency associated with heterozygous mutation in STAT1.

Fatal combined immunodeficiency associated with heterozygous mutation in STAT1.

Journal: The Journal of allergy and clinical immunology

Published: March 28, 2013

Showing 1-12 of 12

Last Updated: 09/26/2026