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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Mannose-binding lectin protein deficiency

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* Not a rare disease
Other Names for this Disease
  • Mannose-binding protein deficiency
  • MBL deficiency
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Symptoms


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What are the signs and symptoms of mannose-binding lectin protein (MBL) deficiency?

Individuals with MBL deficiency are prone to recurrent infections, including infections of the upper respiratory tract and other body systems. Affected individuals may also contract more serious infections such as pneumonia and meningitis. The signs and symptoms associated with MBL deficiency vary among affected individuals; symptoms may depend upon the type of infections present as well as their frequency and severity.[1]

Infants and young children with MBL deficiency seem to be more susceptible to infections, but adults can also develop recurrent infections.[1] Other individuals more susceptible to infection include cancer patients undergoing chemotherapy and organ-transplant patients receiving immunosuppressive drugs (particularly recipients of liver transplants).[2]

There has been much research regarding the role of MBL deficiency in increasing the risk for complications such as infections in those who have both MBL deficiency and other conditions, such as cystic fibrosis; autoimmune diseases such as rheumatoid arthritis and lupus; AIDS; atherosclerosis; and people on chemotherapy for the treatment of blood cancers (e.g., leukemia, lymphoma) and other blood disorders (e.g., myelodysplastic syndromes).[3] However, the results of these studies have been conflicting.
Last updated: 5/11/2012

References
  1. Mannose-binding lectin deficiency. Genetics Home Reference. March 2012; http://ghr.nlm.nih.gov/condition/mannose-binding-lectin-deficiency. Accessed 5/11/2012.
  2. Mannose-binding protein deficiency. Online Mendelian Inheritance of Man (OMIM). December 2011; http://us-east.omim.org/entry/614372. Accessed 1/9/2012.
  3. Agrawal R. Complement deficiency. eMedicine. May 2009; http://emedicine.medscape.com/article/886128-overview. Accessed 1/9/2012.