A recently published interesting paper on CVID Genetics
Oct 25, 2013 16:56:42 GMT
Post by s162216 on Oct 25, 2013 16:56:42 GMT
Hi,
I just discovered this recently published paper on CVID genetics, basically it describes two families where most of the members are affected with CVID, and adrenal insufficiency (also called 'Addison's Disease). After conducting genetic analysis, it was discovered that all of those affected had a mutation present in the NFKB2 gene, which is associated with control of a lot of processes.
As relatively few genes associated with CVID have been identified (CVID is a 'diagnosis of exclusion' where basically if you don't have XLA or CD40L deficiency [Hyper IgM syndrome] then you have CVID, which is a collective term for an estimated around 50 immunodeficiency conditions that have a similar clinical presentation) this is quite interesting as it may assist in screening/diagnosing for the condition, or (in the very very late future) potentially be part of genetic therapy for some patients with CVID who have that particular genetic mutation.
Unfortunately its unknown which genes are affected in nearly all CVID patients (due to the sheer time and cost it would take to find and screen for all the possible mutations), its currently not known how many patients may have this particular mutated gene (although I imagine that follow up studies may try to analyse this).
The paper can be found at this link , if you read it and don't understand anything (I would skip over the methods section if your not familiar with any basic genetic techniques) then if you post a question here I will try to answer it (using my knowledge from my recent Pharmacology degree).
I just discovered this recently published paper on CVID genetics, basically it describes two families where most of the members are affected with CVID, and adrenal insufficiency (also called 'Addison's Disease). After conducting genetic analysis, it was discovered that all of those affected had a mutation present in the NFKB2 gene, which is associated with control of a lot of processes.
As relatively few genes associated with CVID have been identified (CVID is a 'diagnosis of exclusion' where basically if you don't have XLA or CD40L deficiency [Hyper IgM syndrome] then you have CVID, which is a collective term for an estimated around 50 immunodeficiency conditions that have a similar clinical presentation) this is quite interesting as it may assist in screening/diagnosing for the condition, or (in the very very late future) potentially be part of genetic therapy for some patients with CVID who have that particular genetic mutation.
Unfortunately its unknown which genes are affected in nearly all CVID patients (due to the sheer time and cost it would take to find and screen for all the possible mutations), its currently not known how many patients may have this particular mutated gene (although I imagine that follow up studies may try to analyse this).
The paper can be found at this link , if you read it and don't understand anything (I would skip over the methods section if your not familiar with any basic genetic techniques) then if you post a question here I will try to answer it (using my knowledge from my recent Pharmacology degree).
