" /> Mannose-binding lectin deficiency - CISMeF





Preferred Label : Mannose-binding lectin deficiency;

Symbol : MBLD;

CISMeF acronym : LCAPD1; MBLD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Lectin complement activation pathway, defect in, 1; Mbl2 deficiency; Mbl deficiency; LCAPD1; Mbp deficiency; Mannose-binding protein deficiency;

Description : Mannose-binding lectin (MBL) deficiency, defined as MBL protein level of less than 100 ng/ml, is present in about 5% of people of European descent and in about 10% of sub-Saharan Africans. Most MBL-deficient adults appear healthy, but low levels of MBL are associated with increased risk of infection in toddlers, in cancer patients undergoing chemotherapy, and in organ-transplant patients receiving immunosuppressive drugs, particularly recipients of liver transplants (review by Degn et al., 2011).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by variation in the soluble mannose-binding lectin 2 gene (MBL2, 154545.0001);

Laboratory abnormalities : Decreased levels of circulating mannan-binding lectin;

Prefixed ID : #614372;

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01/05/2025


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