CARMIL2 Deficiency Presenting as Very Early Onset Inflammatory Bowel Disease.

ABSTRACT:

Background

Children with very early onset inflammatory bowel diseases (VEO-IBD) often have a refractory and severe disease course. A significant number of described VEO-IBD-causing monogenic disorders can be attributed to defects in immune-related genes. The diagnosis of the underlying primary immunodeficiency (PID) often has critical implications for the treatment of patients with IBD-like phenotypes.

Methods

To identify the molecular etiology in 5 patients from 3 unrelated kindred with IBD-like symptoms, we conducted whole exome sequencing. Immune workup confirmed an underlying PID.

Results

Whole exome sequencing revealed 3 novel CARMIL2 loss-of-function mutations in our patients. Immunophenotyping of peripheral blood mononuclear cells showed reduction of regulatory

SUBMITTER: Magg T 

PROVIDER: S-EPMC6799948 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature