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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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Overview


Mannose-binding lectin protein (MBL) deficiency is a complement component deficiency that alters the function of the body's immune system. This condition usually causes frequent and sometimes severe infections in infants and young children.[1] This deficiency can occur as a result of one or more variations in the MBL2 gene, which codes for the MBL protein. A lack of this protein can cause this condition, but is likely further influenced by other genetic and environmental factors.[2]
Last updated: 4/9/2012

References

  1. Agrawal R. Complement deficiency. eMedicine. May 2009; http://emedicine.medscape.com/article/886128-overview. Accessed 1/9/2012.
  2. Eisen DP. Mannose-binding lectin deficiency and respiratory tract infection. J Innate Immun. February 2010; http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowPDF&ArtikelNr=000228159&Ausgabe=253949&ProduktNr=234234&filename=000228159.pdf. Accessed 1/9/2012.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Mannose-binding lectin protein deficiency. This website is maintained by the National Library of Medicine.
  • Entrez Gene, a searchable database of genes devloped by the National Center for Biotechnology Information (NCBI), has a information page on the MBL2 gene. Click on Entrez Gene to view this information page.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Mannose-binding lectin protein deficiency. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles