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Common Variable Immune Deficiency

Discussion in 'Immunological' started by merylg, Oct 20, 2013.

  1. merylg

    merylg Senior Member

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    Sydney, NSW, Australia
    Scharenberg AM, Hannibal MC, Torgerson T, et al. Common Variable Immune Deficiency Overview. 2006 Jul 5. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1299/
     
    rosie26, Sing and alex3619 like this.
  2. Sing

    Sing Senior Member

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    New England
    Thank you. I am finally being tested by an Immunologist and it seems that CVID could end up being a diagnosis, with my numbers and history. Still working on the "functional " testing, such as, how my body responds to Pneumovax. Whatever she ends up calling what I have (which is really ME/CFS as far as I am concerned), I have benefited from trying to read the article above. Couldn't get it all, but it does increase my knowledge. Thank you, merylg!
     
    rosie26 and merylg like this.
  3. SOC

    SOC Senior Member

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    USA
    Yes, thanks for bringing this to our attention. I, too, am struggling to read the entire document, but what I've read so far looks to be very helpful.

    I may end up with a CVID diagnosis soon also. I have low IgM, low IgG, and IgA in the bottom 10% of the normal range. I also have very low cytotoxic T cells. I think a question relevant to PWME is whether our immune deficiencies are the inherited form called CVID, or whether we have an acquired immune deficiency as the result of an infection. I wonder if the 23andme test identifies the inherited forms of CVID....?
     
    Last edited: Nov 2, 2013
  4. Sea

    Sea Senior Member

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    NSW Australia
    I have low IgA and IgG at the lowest of normal range.

    Here's an interesting article on genetic association in IgAD and CVID. Only a few of them are tested by 23andme though.
    http://www.plosone.org/article/info:doi/10.1371/journal.pone.0012260

    I find it really frustrating when there is info out there on snps and 23andme has so few of them.

    My MSH2 gene looks interesting on 23andme. Of the 373 snps tested I have
    131 homozygous insertions
    10 homozygous deletions
    5 no calls
    4 heterozygous snps (one which is relatively infrequent at 6%) and
    223 homozygous snps which I haven't been through yet to determine how many are the major/minor allele.

    I haven't yet looked at how common any of the snps are (except the hetero ones) so it may not lead to anything interesting in the end but it's worth looking since it is one of the genes associated with immune deficiencies.
     
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