Immunodeficiency due to MASP-2 deficiency

Orpha code: 331187OMIM code: 613791

Definition

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.

Disease data
Classification

Disease

ORPHA code
331187
OMIM code
613791
ICD10 code
D84.1
ICD11 code
-

No additional description.

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