Last Updated: 09/26/2026
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Found 32 publications
Homozygosity for rare or common hypomorphic IL23R variants confers a predisposition to tuberculosis in humans.
Journal: bioRxiv : the preprint server for biology
Published: April 03, 2026
Humans homozygous for rare or common hypomorphic IL23R variants are prone to tuberculosis.
Journal: The Journal of experimental medicine
Published: October 27, 2025
Phase 2a/b randomised placebo-controlled dose-escalation trial of triheptanoin for ataxia-telangiectasia: treating mitochondrial dysfunction with anaplerosis.
Journal: EBioMedicine
Published: January 17, 2025
Somatic deficiency of the human E3 ubiquitin ligase CBL in leukocytes impairs B cell but not T cell development and function.
Journal: Nature immunology
Published: December 16, 2024
Correction to: A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries.
Journal: Journal of clinical immunology
Published: September 19, 2024
Inborn errors of immunity reveal molecular requirements for generation and maintenance of human CD4+ IL-9-expressing cells.
Journal: The Journal of allergy and clinical immunology
Published: May 22, 2024
A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries.
Journal: Journal of clinical immunology
Published: March 21, 2024
Helper T cell immunity in humans with inherited CD4 deficiency.
Journal: The Journal of experimental medicine
Published: June 19, 2023
Role of IL-27 in Epstein-Barr virus infection revealed by IL-27RA deficiency.
Journal: Nature
Published: November 11, 2022
STAT3 gain-of-function mutations connect leukemia with autoimmune disease by pathological NKG2Dhi CD8+ T cell dysregulation and accumulation.
Journal: Immunity
Published: March 21, 2022
Last Updated: 09/26/2026