<p>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.</p>

Autosomal Recessive CD55 Deficiency

Protein-Losing Enteropathies study with SNP/CNV Genotypes (NGS) data on dbGaP (9 participants)

Autosomal Recessive CD55 Deficiency

Description

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Summary