Study: JGAS00000000098

Identifier

AccessionJGAS00000000098

Description

TitleTargeted exome sequencing identify compound heterozygous TYK2 mutations in patients with primary immunodeficiency who developed EBV-associated lymphoma
AbstractIn this study, we evaluated 2 siblings with primary immunodeficiency who developed EBV-associated lymphoma. Immunophenotyping of PBMCs revealed that both patients had significant T cell lymphopenia characterized by low naïve CD4+ T cell counts. To identify the causative genetic mutations in the patients, we performed targeted exome sequencing using the Illumina MiSeq on the patients and their parents. The results showed a novel compound heterozygous mutations in the gene encoding tyrosine kinase 2 (TYK2) in the patients.
Study Type
Study TypeFamily

Publication

PubMed ID29725107
Publication Statuspublished
DB TypePUBMED

Study Attribute

NBDC Numberhum0101
Registration date2017-04-02
Submitting organizationNational Hospital Organization Nagoya Medical Center
Principal InvestigatorYasumasa Iwatani
Molecular Data TypeTargeted exome sequencing
PlatformMiseq
VendorIllumina
Comment
Primary PhenotypeLymphoma
PhenotypeLymphopenia
Dataset
Accession Title Dataset type Data objects Policy
JGAD00000000098 Targeted exome sequencing in patients with primary immunodeficiency disease Exome sequencing 4 JGAP00000000009