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Genetic and Rare Diseases Information Center (GARD)

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Mannose-binding lectin protein deficiency

*


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

My child was just diagnosed with mannose binding lectin protein deficiency. There is alot of information out there, but most is confusing. Are there any statistics on how many people have this? Do they normally live an average life span if you can keep them healthy? Will my future grandchildren be at risk for inheriting it? Is there possibly any link between this disease and taking levaquin during pregnancy?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

How common is mannose-binding lectin protein (MBL) deficiency?

Mannose-binding lectin protein deficiency is thought to be fairly common, with a 3% frequency in the general population.[1] The condition appears to be more common in certain populations; it may be present in about 5% of people of European descent and about 10% of sub-Saharan Africans.[2][3]
Last updated: 5/11/2012

Can people with mannose-binding lectin protein (MBL) deficiencyhave a normal life expectancy?

Mannose-binding lectin protein (MBL) deficiency is a common immunodeficiency that is thought to have a general role in increasing a person's risk for developing respiratory tract infections. Our search of the literature did not indicate that there is an overall reduced life expectancy in people with MBL deficiency alone.[4] 

MBL deficiency may play a bigger role in the risk of infection in people who already have an increased risk for respiratory tract infections, such as people with cystic fibrosis.[4] People with cystic fibrosis are often prone to severe recurrent lung infections and respiratory failure is the most common cause of death. It has been estimated that MBL deficiency can reduce life expectancy by 5 to 8 years in people with cystic fibrosis.[5] In addition, there has been much study regarding the role of MBL deficiency in increasing the risk for serious complications in people who also have autoimmune diseases or AIDS; and in people on chemotherapy for treatment of blood cancers and other blood disorders (e.g., myelodysplastic syndromes). However, studies of the complications and impacts on life expectancy in people with MBL deficiency and these conditions have had conflicting results.[6][7][8][9][10][11]

You can find a comprehensive summary of the literature on this topic at the following link to Online Mendelian Inheritance in Man (OMIM). Although the language is technical, OMIM is considered a comprehensive source of information. You may benefit from discussing this information with a medical professional.
http://us-east.omim.org/entry/614372
Last updated: 1/9/2012

If a person has mannose-binding lectin protein (MBL) deficiency, what are the chances he/she would pass the condition to his/her child?

MBL deficiency can occur as a result of one or more variations in the MBL2 gene, and is likely further influenced by other genetic and environmental factors that are currently poorly understood. Not everyone who inherits a MBL2 gene variation, however, develops signs and symptoms as a result of MBL deficiency. With our current knowledge, it is difficult to assess risks to future offspring. In the future, it is likely much more will be known regarding the genetics of MBL deficiency. We recommend discussing any questions or concerns with a genetics professional.[4] 
Last updated: 1/9/2012

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:
Last updated: 10/18/2013

Is there a link between mannose binding lectin protein deficiency and prenatal exposure to levaquin?

We were unable to find information in our search of the medical literature regarding an association between prenatal exposure of Levaquin and manose binding lectin protein deficiency. You can find details regarding Levaquin on the DailyMed.gov Web site at the following link:
http://dailymed.nlm.nih.gov/dailymed/search.cfm?startswith=levaquin
Last updated: 6/8/2011

References
  • Agrawal R. Complement deficiency. eMedicine. May 2009; http://emedicine.medscape.com/article/886128-overview. Accessed 1/9/2012.
  • Mannose-binding protein deficiency. Online Mendelian Inheritance of Man (OMIM). December 2011; http://us-east.omim.org/entry/614372. 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.
  • 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.
  • Ezekowitz RA. Role of the mannose-binding lectin in innate immunity. Journal of Infectious Diseases. 2003 Jun 15;
  • Tsutsumi A, Takahashi R, Sumida T. Mannose binding lectin: genetics and autoimmune disease. Autoimmun Rev. 2005 Jul; http://www.ncbi.nlm.nih.gov/pubmed/16081027. Accessed 5/4/2011.
  • Troelsen LN, Garred P, Jacobsen S. Mortality and predictors of mortality in rheumatoid arthritis--a role for mannose-binding lectin?. J Rheumatol. 2010 Mar;
  • Vekemans M et al. Low mannose-binding lectin concentration is associated with severe infection in patients with hematological cancer who are undergoing chemotherapy. Clin Infect Dis. 2007 Jun 15;
  • Hoeflich C, et al. Clinical manifestation of mannose-binding lectin deficiency in adults independent of concomitant immunodeficiency. Hum Immunol. 2009 Oct;
  • Dahl M, Tybjaerg-Hansen A, Schnohr P, Nordestgaard BG. A population-based study of morbidity and mortality in mannose-binding lectin deficiency. J Exp Med. 2004 May 17;
  • Turner MW. The role of mannose-binding lectin in health and disease. Mol Immunol. 2003 Nov;