Autosomal Recessive CD55 Deficiency

We describe 11 patients from 8 families with homozygous LOF mutations in the complement regulatory protein CD55. Loss of CD55 is associated with increased complement activation, severe protein losing enteropathy accompanying a primary intestinal lymphangiectasia, and deep vein thrombotic events. We have named this disease CHAPLE after the principle components of the disease.]]>
Patient samples were chosen for inclusion in the project based on the following criteria: Families who had similar syndromic features were studied Patients, parents and other family members are available DNA was available for use in whole genome or exome sequencing Informed consent documentation ]]>