Rafah Mackeh

Research Branch
Doha, DA, Qatar

Last Updated: 09/26/2026

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Found 15 publications

Inherited human TFIIIA deficiency disrupts T cell development.

Inherited human TFIIIA deficiency disrupts T cell development.

Journal: medRxiv : the preprint server for health sciences

Published: July 10, 2026

Autosomal recessive A20 zinc finger 7 mutation is associated with early-onset lupus-like disease.

Autosomal recessive A20 zinc finger 7 mutation is associated with early-onset lupus-like disease.

Journal: Inflammation research : official journal of the European Histamine Research Society ... [et al.]

Published: November 19, 2025

Dual variants of uncertain significance in a case of hyper-IgM syndrome: implications for diagnosis and management.

Dual variants of uncertain significance in a case of hyper-IgM syndrome: implications for diagnosis and management.

Journal: Frontiers in immunology

Published: March 16, 2025

Establishing a Structured Hypospadias Biobank Cohort for Integrated Research: Methodology, Comprehensive Database Integration, and Phenotyping.

Establishing a Structured Hypospadias Biobank Cohort for Integrated Research: Methodology, Comprehensive Database Integration, and Phenotyping.

Journal: Diagnostics (Basel, Switzerland)

Published: January 07, 2025

GPR15-guided CD8+ T regulatory cells control intestinal inflammation.

GPR15-guided CD8+ T regulatory cells control intestinal inflammation.

Journal: Nature

Published: November 18, 2024

Concomitant Ultrarare Mutations in TLR3 and CTPS2 in a Patient with Severe and Recurrent Respiratory Infections in Early Life.

Concomitant Ultrarare Mutations in TLR3 and CTPS2 in a Patient with Severe and Recurrent Respiratory Infections in Early Life.

Journal: Journal of clinical immunology

Published: December 06, 2023

Novel Synonymous Variant in IL7R Causes Preferential Expression of the Soluble Isoform.

Novel Synonymous Variant in IL7R Causes Preferential Expression of the Soluble Isoform.

Journal: Journal of clinical immunology

Published: August 28, 2023

Loss of the TRPM4 channel in humans causes immune dysregulation with defective monocyte migration.

Loss of the TRPM4 channel in humans causes immune dysregulation with defective monocyte migration.

Journal: The Journal of allergy and clinical immunology

Published: June 07, 2023

A Novel STK4 Mutation Impairs T Cell Immunity Through Dysregulation of Cytokine-Induced Adhesion and Chemotaxis Genes.

A Novel STK4 Mutation Impairs T Cell Immunity Through Dysregulation of Cytokine-Induced Adhesion and Chemotaxis Genes.

Journal: Journal of clinical immunology

Published: March 14, 2021

Novel ORAI1 Mutation Disrupts Channel Trafficking Resulting in Combined Immunodeficiency.

Novel ORAI1 Mutation Disrupts Channel Trafficking Resulting in Combined Immunodeficiency.

Journal: Journal of clinical immunology

Published: November 30, 2020

C2H2-Type Zinc Finger Proteins in Brain Development, Neurodevelopmental, and Other Neuropsychiatric Disorders: Systematic Literature-Based Analysis.

C2H2-Type Zinc Finger Proteins in Brain Development, Neurodevelopmental, and Other Neuropsychiatric Disorders: Systematic Literature-Based Analysis.

Journal: Frontiers in neurology

Published: November 14, 2019

Single-Nucleotide Variations of the Human Nuclear Hormone Receptor Genes in 60,000 Individuals.

Single-Nucleotide Variations of the Human Nuclear Hormone Receptor Genes in 60,000 Individuals.

Journal: Journal of the Endocrine Society

Published: October 18, 2017

Showing 1-12 of 15

Last Updated: 09/26/2026