Mehul A. Sharma

Vancouver, BC, Canada

Last Updated: 09/26/2026

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Found 30 publications

Human germline biallelic loss-of-function OSMR variants cause severe allergic disease.

Human germline biallelic loss-of-function OSMR variants cause severe allergic disease.

Journal: Journal of human immunity

Published: April 15, 2026

Author Correction: Multi-omic profiling reveals age-related immune dynamics in healthy adults.

Author Correction: Multi-omic profiling reveals age-related immune dynamics in healthy adults.

Journal: Nature

Published: April 10, 2026

Human germline biallelic loss-of-function OSMR variants cause severe allergic disease.

Human germline biallelic loss-of-function OSMR variants cause severe allergic disease.

Journal: medRxiv : the preprint server for health sciences

Published: September 19, 2025

STAT6 gain-of-function disease: p.D519N is a new disease-causing variant that responds well to dupilumab treatment.

STAT6 gain-of-function disease: p.D519N is a new disease-causing variant that responds well to dupilumab treatment.

Journal: The journal of allergy and clinical immunology. Global

Published: November 18, 2024

Multi-omic profiling reveals age-related immune dynamics in healthy adults.

Multi-omic profiling reveals age-related immune dynamics in healthy adults.

Journal: Nature

Published: October 02, 2024

Longitudinal Multi-omic Immune Profiling Reveals Age-Related Immune Cell Dynamics in Healthy Adults.

Longitudinal Multi-omic Immune Profiling Reveals Age-Related Immune Cell Dynamics in Healthy Adults.

Journal: bioRxiv : the preprint server for biology

Published: September 24, 2024

A multimorphic variant in ThPOK causes an inborn error of immunity with T cell defects and fibrosis.

A multimorphic variant in ThPOK causes an inborn error of immunity with T cell defects and fibrosis.

Journal: The Journal of experimental medicine

Published: July 08, 2024

A Germline Heterozygous Dominant Negative IKZF2 Variant Causing Syndromic Primary Immune Regulatory Disorder and ICHAD.

A Germline Heterozygous Dominant Negative IKZF2 Variant Causing Syndromic Primary Immune Regulatory Disorder and ICHAD.

Journal: Journal of clinical immunology

Published: June 14, 2024

ASXL1 deficiency causes epigenetic dysfunction, combined immunodeficiency, and EBV-associated lymphoma.

ASXL1 deficiency causes epigenetic dysfunction, combined immunodeficiency, and EBV-associated lymphoma.

Journal: The Journal of experimental medicine

Published: June 01, 2024

Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism.

Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism.

Journal: HGG advances

Published: September 26, 2023

Transcription factor defects in inborn errors of immunity with atopy.

Transcription factor defects in inborn errors of immunity with atopy.

Journal: Frontiers in allergy

Published: June 10, 2023

Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.

Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.

Journal: Journal of medical genetics

Published: December 27, 2022

Showing 1-12 of 30

Last Updated: 09/26/2026