Masahiro Ueki

11PUBLICATIONS
56CO-AUTHORS
NeonatologyImmunogenetics (incl. genetic immunology)Rheumatology and arthritisGenetic immunologyOphthalmology and optometry not elsewhere classified
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (11)

|Aug 28, 2026
Nationwide TREC/KREC-based newborn screening and clinical outcomes in Japan.

|Jun 25, 2026
Thalidomide for CGD-related inflammatory bowel disease: A randomized, double-blind trial.

|Jun 23, 2026
Clinical heterogeneity in paediatric patients with chronic nonbacterial osteomyelitis and chronic recurrent multifocal osteomyelitis.

|Mar 07, 2026
A patient with WHIM syndrome presenting relatively low TREC, KREC, and housekeeping gene levels by newborn screening -a case report and the literature review.

Yuta Azuma, Shinsuke Hirabayashi, Masahiro Ueki

|Nov 01, 2024
Increased response to granulocyte-macrophage colony-stimulating factor in peripheral blood cells and transient manifestations mimicking juvenile myelomonocytic leukemia in a male patient with NEMO deficiency caused by a deep intronic pathogenic variant of IKBKG.

Masahiro Ueki, Shinsuke Hirabayashi, Yoshitaka Honda

|Apr 23, 2024
A de novo dominant-negative variant is associated with OTULIN-related autoinflammatory syndrome.

Yukiko Takeda, Masahiro Ueki, Junpei Matsuhiro

Pageof 2

Frequent Collaborators

3 joint publications

Ichiro Kobayashi

3 joint publications

Shunichiro Takezaki

2 joint publications

Yuka Okura

2 joint publications

Masataka Ishimura