Mannose-binding lectin protein deficiency
* Not a rare disease
Other Names for this Disease
- MBL deficiency
- Mannose-binding protein deficiency
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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. 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.Mannose-binding lectin protein (MBL) deficiency is a
Last updated: 4/9/2012
- Agrawal R. Complement deficiency. eMedicine. May 2009; http://emedicine.medscape.com/article/886128-overview. Accessed 1/9/2012.
- 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.
- 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.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- Online Mendelian Inheritance in Man (OMIM) is a 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.
- Eisen DP. Mannose-Binding Lectin Deficiency and Respiratory Tract Infection. J Innate Immun. 2010 Feb;2:114-122.