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Due to system maintenance, the application system, application review by the Data Access Committee will be unavailable during the following period.
Schedule: October 5th (Mon), 2026, 9:00 - October 7th (Wed), 2026, 15:00 (JST)
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We are currently receiving a large number of applications for data submission, and the review process is taking longer than usual.We sincerely apologize for the delay and kindly ask for your understanding. When submitting an application, we would greatly appreciate it if you could allow sufficient time for the processing.

Following a change to our organizational structure effective April 1, 2026, this division has been renamed from the "Database Center for Life Science, Joint Support-Center for Data Science Research" to the "Database Division for Life Science (DBCLS), BioData Science Initiative (BSI), National Institute of Genetics (NIG)". Where the former name still appears in the guidelines, please read it as the new name.

Research ID

hum0101-v1Release info

Latest

Research title

Identification of gene mutations in primary immunodeficiency characterized by EBV-associated B-cell lymphoma

Research overview

Aims
Identification of gene mutations in the patients with primary immunodeficiency characterized by EBV-associated B-cell lymphoma
Methods
targeted exome sequencing
Participants/materials
two patients with primary immunodeficiency (PID) characterized by EBV-associated B-cell lymphoma and their parents
URL

Datasets

CartDataset IDType of dataAnalysis methodAccess criteriaDate published
JGAD000098NGS (Target Capture)
  • Targeted DNA sequencing
Controlled-access (Type I)2020-09-28

Data provider

Principal investigator
Yasumasa Iwatani
Affiliation
Department of Infectious Diseases and Immunology, Clinical Research Center, National Hospital Organization Nagoya Medical Center

Research projects

No research projects.

Grants

No grants.

Related publications

TitleDOIDataset ID
Compound heterozygous TYK2 mutations underlie primary immunodeficiency with T-cell lymphopenia
https://doi.org/10.1038/s41598-018-25260-8 (opens in a new tab)

Controlled access users

No use of the controlled access data has been recorded.