Mannose-binding lectin protein deficiency
* Not a rare disease
Other Names for this Disease
- Mannose-binding protein deficiency
- MBL deficiency
Your QuestionMy wife has been diagnosed with MBL deficiency. Can you provide us with information on this condition?
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Questions on this page
- What is mannose-binding lectin protein (MBL) deficiency?
- What causes mannose-binding lectin protein (MBL) deficiency?
- What are the signs and symptoms of mannose-binding lectin protein (MBL) deficiency?
- How might mannose-binding lectin protein (MBL) deficiency be treated?
- How can I learn about research involving mannose-binding lectin protein (MBL) deficiency?
The mannose-binding lectin (MBL) protein is excreted by the liver and is part of our innate immune defense. This protein binds to sugars on the surface of microorganisms to signal their destruction and triggers one of the major complement cascades called the “mannose-binding lectin (MBL) pathway.” Complement cascades are made up of proteins that work together to destroy bacteria and other antigens. The mannose binding protein circulates in the blood in an inactive form. When it is activated it sets in motion a domino effect where each component of the mannose-binding lectin pathway takes its turn in a precise chain of steps. The end products from the cascade are able to destroy invading bacteria and other antigens.
More information on immune system responses can be found at the following link from MedlinePlus, the National Library of Medicine Web site designed to help you research your health questions.
Infants and young children with MBL deficiency seem to be more susceptible to infections, but adults can also develop recurrent infections. Other individuals more susceptible to infection include cancer patients undergoing chemotherapy and organ-transplant patients receiving immunosuppressive drugs (particularly recipients of liver transplants).
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). However, the results of these studies have been conflicting.
ClinicalTrials.gov lists trials that are studying or have studied mannose-binding lectin protein (MBL) deficiency. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
You can also contact the Patient Recruitment and Public Liaison (PRPL) Office at the National Institutes of Health (NIH). We recommend calling the toll-free number listed below to speak with a specialist, who can help you determine if your wife is eligible for any clinical trials.
Patient Recruitment and Public Liaison Office
NIH Clinical Center
Bethesda, Maryland 20892-2655
Web site: http://clinicalcenter.nih.gov/
You can find helpful general information on clinical trials at the following ClinicalTrials.gov Web page.
Resources on many charitable or special-fare flights to research and treatment sites and low-cost hospitality accommodations for outpatients and family members, as well as ambulance services, are listed on the Web site of the Office of Rare Diseases (ORD), part of the National Institutes of Health.
- 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.
- Immune system, Complement system. National Institute of Allergy and Infectious Disease. October 2008; http://www.niaid.nih.gov/topics/immuneSystem/immuneCells/complementSystem.htm. Accessed 1/9/2012.
- Mannose-binding lectin deficiency. Genetics Home Reference. March 2012; http://ghr.nlm.nih.gov/condition/mannose-binding-lectin-deficiency. Accessed 5/11/2012.
- Mannose-binding protein deficiency. Online Mendelian Inheritance of Man (OMIM). December 2011; http://us-east.omim.org/entry/614372. Accessed 1/9/2012.