CHAPLE disease (CD55-deficient protein-losing enteropathy)
Autoszomális recesszív
Complement hyperactivation, angiopathic thrombosis and protein-losing enteropathy caused by loss of CD55.
Mit változtat a diagnózis
Complement-blocking treatment, including pozelimab, which the FDA approved for this condition in 2023, can control the disease.
Vizsgált gének
Más néven
CHAPLE; protein-losing enteropathy (disease)
