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mannose binding lectin deficiency


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I've never heard of this before but you've really piqued my interest. Apparently, DD and I have numerous heterogeneous mutations on this gene and she's been fighting chronic sinusitus and some yet-to-be-identified trigger for a very long time. Please share if you find any good info and I'll do likewise.

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I can't find anything that discusses treatment. What little research I can find seems to support the argument that you need to be homozygous for certain alleles - that being homozygous doesn't put you at any statistically greater risk of chronic infection than those who have wild type alleles. But I haven't been able to find the rs id #s for the relevant snps. This was the best I've found so far http://omim.org/entry/614372

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My son (who also has PANDAS) has a severe/profound MBL deficiency (he has almost none) that was discovered during an immunological workup. The immunologist said that usually the immune system compensates by the age of 5 for this in terms of fighting infection. However I have discovered in my own research that people with profound deficiencies often have co-occuring auto-immune issues or other immune issues:

http://www.jacionline.org/article/S0091-6749%2811%2902317-7/fulltext

 

 

Also here is an article that warns that there should be caution despite the fact that most research shows that MBL deficiency may not be serious. Search "Mannose Binding Lectin Deficiency: More than meets the eye

(Clinical Medicine Insights: Pediatrics 2012:6 89–94)

 

There is a ton of research out there. What I suggest is searching you or your child's symptoms or other diagnoses + MBL deficiency. For example MBL+ gastrointestinal issues, or MBL plus dermatological symptoms. Really there is no treatment, only prevention using antibiotics, which my DS is on for PANDAS anyway. There are have been and are studies going on with replacement therapy but to my knowledge that is done only with severely ill patients such as with cancer/getting chemo or acutely ill individuals. Supposedly the MBL has a very short half-life.

 

My DS also has Celiac Disease which a connection with MBL deficiency is supported by research. I am convinced that his almost total lack of MBL played a role in his auto immune diseases due to the ramping up of the other two pathways in the complement system trying to compensate for the MBL at a young age. There have been some good studies associating Lupus with MBL which is an autoimmune disease But what do I know, I'm just the mom! But here is a good article to read that relates to this.

 

The Role of Complement in Inflammatory Diseases From Behind the Scenes into the Spotlight

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1959484/

Edited by MomtoJake
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