Mehul Sharma

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

This study uses multi-omic profiling to analyze immune cell dynamics in healthy adults over time, finding age-related transcriptional changes in T cells and impaired memory B cell responses in older adults.

A germline heterozygous dominant negative IKZF2 variant causing syndromic primary immune regulatory disorder and ICHAD

The paper describes a germline variant in IKZF2 causing immune dysregulation, including AIHA and atopic dermatitis, and reports single-cell RNA sequencing findings on T cell dysfunction.

Human Germline Heterozygous Gain-of-Function STAT6 Variants Cause Severe Allergic Disease

This study identifies heterozygous gain-of-function STAT6 variants in two patients with severe allergic disease and shows JAK inhibitors reduce the enhanced STAT6 responses.

Human germline biallelic complete NFAT1 deficiency causes the triad of progressive joint contractures, osteochondromas, and susceptibility to B cell malignancy

The paper identifies a human with complete NFAT1 deficiency, revealing its role in joint contractures, osteochondromas, and B cell malignancy through single-cell omic analyses.