Immunodeficiency due to MASP-2 deficiency

Get in touch with RARE Concierge.

Contact RARE Concierge

Immunodeficiency due to MASP-2 deficiency

Immunodeficiency due to MASP-2 deficiency is a rare genetic immunodeficiency due to a complement cascade protein anomaly characterized by low serum levels of MASP-2 and a variable susceptibility to bacterial infections (e.g. pulmonary tuberculosis pneumococcal pneumonia skin abscesses and sepsis) and autoimmune diseases (e.g. inflammatory lung disease cystic fibrosis systemic lupus erythematosus). In many cases it remains asymptomatic.

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 March 2024

Newly diagnosed with
Immunodeficiency due to MASP-2 deficiency?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Clinical Trials

For a list of clinical trials in this disease area, please click here.