IMMUNOLOGY × HUMAN GENETICS
Kazuyuki Meguro
From rare variants discovered in the clinic to molecular mechanisms and disease models—
translating human genetics into diagnosis and therapy.
Institute for Advanced Academic Research / Chiba University Hospital
Allergy and Clinical Immunology | M.D., Ph.D.
02 / RESEARCH
We begin with genetic clues found in patients,
establish causal mechanisms experimentally, and translate them into therapy.
Why does an immune sensor turn against the self?
Starting from gain-of-function TLR7 variants identified in severe SLE, we investigate how altered response thresholds and RNA-ligand recognition drive autoimmunity in human cells and disease models.
Reading the principles of human immunity from a single variant.
We analyze patient genomes in inborn errors of immunity and immune dysregulation, then test candidate variants at the molecular and cellular levels. Our aim extends beyond diagnosis to the principles of host defense and immune homeostasis.
Turning rare cases into the next diagnosis and treatment.
We move iteratively among clinical phenotypes, whole-exome sequencing, functional assays, disease models, and omics to establish causal chains in disease, while accounting for differences between humans and model organisms.
03 / FOR THE PUBLIC
The immune system protects us from bacteria and viruses. But when it responds too strongly—or targets the wrong thing—it can damage our own bodies and cause immune disease.
We use small genetic differences found in patients as clues, test how disease develops, and work toward new diagnostic and therapeutic approaches. Rare-disease research takes time and sustained support. Donations help fund genetic analysis, experiments in cells and disease models, and the work needed to bring therapeutic candidates closer to patients.
When donating through the Chiba University Future Medical Fund, please enter both “目黒免疫遺伝子研究” and “アレルギー臨床免疫学 目黒和行” as the designated use of funds.
04 / SELECTED WORKS
Takayama A, Meguro K, et al. · Frontiers in Immunology 17:1849090
Genetic and functional analysis of XLA diagnosed in adulthood
Yamauchi H, Hino M, Meguro K, Yamashita Y, et al. · Case Reports in Hematology 2026:1949986
Genetic and functional analysis of FHL2 carrying a novel PRF1 A21V variant
Takayama A, Meguro K, et al. · medRxiv
Connecting altered TLR7 ligand specificity to human lupus
Ham H, Jing H, Lamborn IT, et al. · Science 385:eadd8947
Human genetics reveals signaling cross-talk in T cells
Zhang Q, Bastard P, Liu Z, et al.; COVID Human Genetic Effort · Science 370:eabd4570
TLR3- and IRF7-dependent type I interferon defects underlying life-threatening COVID-19
Meguro K, et al. · Arthritis & Rheumatology 67:2651–2660
Bcl-3 control of Tfh-cell development and rheumatoid arthritis pathogenesis
05 / TRACK RECORD
A / AWARDS
F / FUNDING
P / PRESENTATIONS
