Condition report · Gastrointestinal
A rare inherited immune disorder in which loss of the CD55 protein leaves cells unprotected from the complement system, causing protein loss from the gut, swelling, poor growth and a risk of blood clots. Targeted treatment is now available.
A condition report looks for rare variants known to cause the conditions it covers.
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What your report covers
Autosomal recessive
Complement hyperactivation, angiopathic thrombosis and protein-losing enteropathy caused by loss of CD55.
What a diagnosis changes
Complement-blocking treatment, including pozelimab, which the FDA approved for this condition in 2023, can control the disease.
Genes analysed
Also known as
CHAPLE; protein-losing enteropathy (disease)
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