Germline CARD11 Mutation in a Patient with Severe Congenital B Cell Lymphocytosis.

ABSTRACT:

Purpose

Activating germline mutations in CARD11 have recently been linked to a rare genetic disorder associated with congenital B cell lymphocytosis. We describe a patient with a similar clinical phenotype who had a de novo germline G123D CARD11 mutation.

Methods

Whole exome sequencing was performed on DNA from the patient and his biological parents. Laboratory studies examined characteristics of the patient's B and T lymphocytes. A CARD11 cDNA containing the mutation was transfected into a lymphocyte cell line to gain an understanding of its function. RNA sequencing was performed on samples from the patient and from patients with alternate germline CARD11 mutations and differential gene expression analysis was performed.

Results

The patient had a decade-long history

SUBMITTER: Brohl AS 

PROVIDER: S-EPMC4466218 | biostudies-literature | 2015 Jan

REPOSITORIES: biostudies-literature