Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome

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Synonyms: CD55 deficiency | CHAPLE syndrome

A rare genetic disease characterized by CD55 deficiency with complement hyperactivation angiopathic thrombosis and protein-losing enteropathy with abdominal pain diarrhea vomiting primary intestinal lymphangiectasia hypoproteinemic edema and malabsorption leading to anemia and growth delay. Bowel inflammation and recurrent infections associated with hypogammaglobulinemia may also be observed.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Clinical Trials

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