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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.
Click to expand...

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.

Senior Member
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Diwi9 said:
They are considered severe by some lab standards, but my doctors dismiss my values completely?
Click to expand...
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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