CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis.

ABSTRACT:

Background

Studies of monogenic gastrointestinal diseases have revealed molecular pathways critical to gut homeostasis and enabled the development of targeted therapies.

Methods

We studied 11 patients with abdominal pain and diarrhea caused by early-onset protein-losing enteropathy with primary intestinal lymphangiectasia, edema due to hypoproteinemia, malabsorption, and less frequently, bowel inflammation, recurrent infections, and angiopathic thromboembolic disease; the disorder followed an autosomal recessive pattern of inheritance. Whole-exome sequencing was performed to identify gene variants. We evaluated the function of CD55 in patients' cells, which we confirmed by means of exogenous induction of expression of CD55.

Results

We identified homozygous loss-of-fun

SUBMITTER: Ozen A 

PROVIDER: S-EPMC6690356 | biostudies-literature | 2017 Jul

REPOSITORIES: biostudies-literature