Autosomal Recessive CD55 Deficiency
Ontology highlight
ABSTRACT: 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.
SECONDARY ACCESSION(S): PRJNA389488PRJNA389487
REPOSITORIES: dbGaP
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