CHAPLE disease (CD55-deficient protein-losing enteropathy)
Autozomálně recesivní
Complement hyperactivation, angiopathic thrombosis and protein-losing enteropathy caused by loss of CD55.
Co se diagnózou změní
Complement-blocking treatment, including pozelimab, which the FDA approved for this condition in 2023, can control the disease.
Analyzované geny
Známé také jako
CHAPLE; protein-losing enteropathy (disease)
