National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Mannose-binding lectin protein deficiency

Not a rare disease Not a rare disease
Other Names:
MBL deficiency; Mannose-binding protein deficiency
Categories:
Mannose-binding lectin (MBL) deficiency results in a decreased amount of a specific protein (mannan-binding protein) involved in the immune system. It was originally thought that MBL deficiency resulted in an increased susceptibility to infections. However, low levels of this protein have been found in many healthy people.[1] MBL deficiency is more likely to be associated with infections in toddlers and those who have a weakened immune system (immunocompromised), including those with an underlying medical condition, cancer patients undergoing chemotherapy, and organ-transplant patients.[1][2][3] Some studies have also suggested an association between severe MBL deficiency and recurrent infections.[4] MBL deficiency is caused by changes in the MBL2 gene. However, it is important to note that changes in this gene are very common in the general population.[2][3] Treatment for individuals with recurrent infections and MBL deficiency may include antibiotics to treat bacterial infections and regular vaccinations. Prophylactic antibiotics may be indicated in some cases.[1]
Last updated: 11/23/2016

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Disseminated cryptosporidium infection 0031699
Failure to thrive
Faltering weight
Weight faltering
[ more ] 		0001508
Recurrent herpes
Susceptibility to herpesvirus
0005353
Recurrent Klebsiella infections 0002742
Recurrent meningococcal disease
Increased susceptibility to neisseria meningitidis infections
0005381
Recurrent skin infections
Skin infections, recurrent
0001581
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Last updated: 7/1/2020

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

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These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Mannose-binding lectin protein deficiency. This website is maintained by the National Library of Medicine.

In-Depth Information

  • 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.

Selected Full-Text Journal Articles

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  • Our child was recently diagnosed with 10q22.3q23.2 microdeletion syndrome. She was also diagnosed with mannose binding lectin deficiency. With these both stemming from Chromosome 10 is there any additional information on these specific deletions and if there is a relation between the two? Additionally, is there any information on what possible health risks we should look out for (crohn's disease, heart, liver etc). Thank you for your time. See answer

  • My son was diagnosed with this last year. He has had multiple vaccinations. What are the actual numbers of how many Americans have this? Is there any work being done on finding a cure? Are there any ongoing studies? I know a little girl who has the same thing and she has had problems with her urinary tract but my son only had problems with his ears, nose and throat. Are these differences common? Any information would be greatly appreciated. Its very frustrating having so many questions and not many answers. See answer

  • 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? See answer

  • My wife has been diagnosed with MBL deficiency. Can you provide us with information on this condition? See answer


  1. Bronkhorst MW and Bouwman LH. Mannose-binding lectin deficiency. UpToDate. July 13 2016; http://www.uptodate.com/contents/mannose-binding-lectin-deficiency.
  2. Mannose-binding lectin deficiency. Genetics Home Reference. March 2012; http://ghr.nlm.nih.gov/condition/mannose-binding-lectin-deficiency.
  3. Kniffen CL and Gross. Mannose-binding Lectin Protein Deficiency. Online Mendelian Inheritance in Man (OMIM). June 2 2016; http://www.omim.org/entry/614372.
  4. Holdaway J, Deacock S, Williams P, Karim Y. Mannose-binding lectin deficiency and predisposition to recurrent infection in adults. J Clin Pathol. August 2016; 69(8):731-6. https://www.ncbi.nlm.nih.gov/pubmed/26837313.