Evaluation of immune dysregulation in an Austrian patient cohort suffering from ME/CFS

Diwi9

Diwi9

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@Martin aka paused||M.E. - Just going to pipe in here that I too am Mannose-Binding Lectin deficient. I had my genetics tested and saw that I carried the mutation, so I asked my doctor if I could get tested. I tested at a 3. This is the language in my lab report
Clinical studies have used 50 or 100 ng/mL to define severe MBL deficiency. MBL is also known to activate the classical complement pathway through its binding to serine proteases MASP-2 and MASP-1. MBL deficiency has been associated with recurrent infections in children 6 months to 17 months of age, during the time when the adaptive immune system (IgG production) is not fully mature.
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Everyone seems to blow this mutation off because it is so common. But I am curious if the values within the ME/CFS community are frequently as low and Martin and my readings. We are both essentially completely deficient.
 
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Diwi9

Diwi9

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Martin aka paused||M.E. said:
The heterozygous mutation is common. The homozygous where you don't produce any detectable MBL is very rare.
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I think I am heterozygous, but I don't think it matters much if the outcome is that one is effectively completely deficient. What is the impact of my near complete deficiency from someone who is at a 50 or 100? They are considered severe by some lab standards, but my doctors dismiss my values completely?

What is interesting is that I was never sick as a kid and I grew up overseas and travelled. I first starting getting sick in junior high and high school...basically puberty. Still, I was the captain of my crew team and qualified for national-level competitions. That whole time, I was dealing with illness. It was not until my 30's that I could no longer perform, but I had difficulty with infections for years and years that went unaddressed.
 
Martin aka paused||M.E.

Martin aka paused||M.E.

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Diwi9 said:
They are considered severe by some lab standards, but my doctors dismiss my values completely?
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Because it's nothing that they can diagnose. One thing I have learned about docs: they only understand the lab results that point towards a certain diagnosis. MBL deficiency as such is not treatable so they don't see any value in testing it.

I often had a cold. 5-7 times per year and then I suffered much longer and worse than other children. I also remember that I had many colds as a teenager. This might explain it a bit. But the whole body, especially the immune system is a very complex interplay between our own gene expression and those of our microbiome and virome... Hard to say if it was only the MBL deficiency.

Now I have a very long list of immunological anomalies doctors can't make a sense of. They all agree that sth goes terribly wrong but no one knows why.

I think I do. Pathogens.
 
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