Once a diagnosis is made, the treatment is based on an individual’s clinical condition. Kurolap and colleagues treated patients with off-label eculizumab, a humanized anti-C5 monoclonal antibody and complement inhibitor, and it was shown to have beneficial outcomes over an 18-month period. Investigators at Marmara University in Istanbul, Turkey, and the National Institute of Allergy and Infectious Diseases at the US National Institutes of Health in Bethesda, Maryland currently have clinical protocols to study new approaches to the diagnosis and treatment of this disorder.
CD55 deficiency
CD25 deficiency
MBL deficiency
Complement 2 deficiency
Complement 3 deficiency
Leukocyte adhesion molecule deficiency
Caspase-8 deficiency
CDKL5 deficiency disorder