Is it genetic?

[syd]

Hello,

Anybody else totally confused by the whole Genes thing? If CVID is genetic, why haven't I suffered my whole life. And why hasn't anyone else in my family got it?

Any info on this would be great!

S

[beckag87]

Hi Syd,

I too am in the same quandary. I have 5 brothers and sisters who are aged 12-23 and are at school/university.

They all appear well/sporty - my sister is the next Athletic Union President at St Andrews University and none of my siblings seem to be ill like me. My parents are also seemingly ok.

I'm confused too!

Becks

[s162216]

Hi,

Its because the mutation on the affected genes can either be passed on from parents or more commonly they can occur as a new mutation during sperm/egg production or fertilisation. Even if one parent passes on a mutated gene then it doesn't necessarily mean that the offspring will have CVID as CVID itself is a diagnosis of exclusion (i.e if its not XLA and not CD40L deficiency then its CVID) and represents about 80 or so known PID's with clinically similar symptoms (impaired humoral response to infection etc) but different causes (e.e B-Cell production faults, inert antibodies being made, problems with T-Cell function). Because of this, some forms require both parents to have the same mutation and others only one (although children may still exhibit this to a smaller extent) to be passed on, as there are so many forms and mutations its unlikely that parents with the same mutation (which may or may not be expressed in them) will meet, although you might get 'cross functioning' between similar mutations. This is a problem with genetics and the uninformed person, just because you might be predisposed to something or express a mutation does not necessarily mean that you will get cancer or heart disease or whatever, your chances are just a but higher.

The reason that people with CVID don't always suffer is not very well known, some people are ill with infections all their lives whilst others like me suffer only a few more than normal infections and illness and then suddenly can dramatically find out like getting pneumonia multiple times for example. I got found out early by complete accident so I should not get a problem like that as I am on IVIG to keep things normal and less likely to get infections, which I do occasionally a few times a year. Its a topic which is constantly being investigated.

Sam

[syd]

Becks, weird init! My bro and sis are totally healthy but live really unhealthy lives!

Sam, wow, thank you, it's a bit confusing still though. So it will be the case that I have had the dodgy gene my whole life but just started suffering late?And nobody really knows why? And that it's possible that nobody in my family has the gene but I am the first?

Also, if I had children, would they be likely to get it?

[liz2mac]

Hi all,
Dr Longhurst explained part of the reason for this on Saturday. Whilst they have found one gene that appears to be involved in one type of CVID, they are certain that all CVID types have a gevetic implication (an ability to cause a problem given the "right" circumstances) and an environmental trigger. So, for me, I was relatively well until I was 17, at which point I caught glandular fever. For me, this was the "trigger" which caused the genetic defect to be activated and along came full blown CVID. As you will know from the website, CVID is actually a collection of diseases which all appear to be the same. i.e. we don't make antibodies. However, the different types of CVID (which researchers know exist but haven't yet been able to identify any other than Grays Syndrome) are probably caused by different problems in other parts of the immune system. XLA, which is an x linked PAD does not make any B cells. B cells eventually become antibodies. Most CVID's make B cells, but the immune system is unable to make these mature into antibodies. This could be because we actually have a problem with out t cells. Lets go back a bit. The immune system is INCREDIBLY complicated, but to break it down into a very basic state, we have two types of immune cells, the B cells which are made in the Bone marrow and the T cells which are made in the Thymus. B cells fight bacteris and T cells fight viruses.Now B cells need, amongst other things, T helper cells in order to get kicked into action to become antibodies. So, if a certain group of CVID has a problem with their T helper cells, this may be the reason that they can't make antibodies. I wonder if maybe, just maybe, these T helper cells are damaged by our having a virus, like glandular fever? As you know, UKPIPS isn't going to get involved in funding research into out diseases. That's not because we don't want medical research to be done, but because it is SO expensive that any monet we may raise would be a drop in the ocean, also we feel that there is a \huge amount of work to be done in supporting people where they are right now. To dilute our efforts in doing this by attempting to support research as well is not what we want to do. However, we would be very supportive of anybody is willing to start up a charity solely devoted to medical research. In our governing document we state that we will support research into the psychological and emotional aspects of PAd & Pid, both for those of us who have it and our Carers.
Liz

[syd]

A trigger, how interesting. I'm not sure what mine could have been. Maybe I got swine flu or dengue fever or something.

[john]

hi syd,
not dengue fever caught in barcelona i hope???
hope you're well
take care - john

[s162216]

Hi,

A trigger doesn't neccesarily mean a virus or illness, it could be anything from your body suddenly being deficient in something, to the immune system encountering a foreign body to like suggested an illness. Some people are just 'triggered' from the start. Its the same with other genetic diseases such as Type 1 Diabetes, there is a trigger but its unknown and things from viruses to cows milk have been suggestions as to what triggers its onset.

Sam

[gilliem]

Hi. I'm the only one in my family, too. My trigger was reaching menopause. It was rather like going into freefall off a cliff! My immunologist told me that this response at menopause is quite well documented.
Best wishes,
Gillie.

[syd]

John, no I travelled South America for a bit around the time my symptoms started.

Sam, yeah it's interesting. Do you think stress could be a trigger or even just reaching a certain age?

Gillie, fascinating. Did the symptoms come on quickly?

[mali42]

Iv had it all my life startingwith skin problems, bronchitis, sinus issues, shingles warts, pneumonia etc with my immune system slowly decreasing until I had no immune system left with just surviving on antibiotics until diagnoses at age 42. why didn't any one spot it before then I don't know :-(

Malcolm

[syd]

Wow, that's terrible Malcolm. Did anybody in your family have the same thing?

[mali42]

It was only the last couple of years when I was ill constantly that were really bad and the only reason I got a diagnoses was I went back to see the same doctor a week after being ill and he finally sent me to the chest clinic which run the right tests.

I'm the only one in the family with cvid my brother and sister are fine,

Malcolm

[gilliem]

Hi Syd. I'd say my bad symptoms developed over a couple of years. For example, I had shingles 7 times in a period of 14 months. You feel ill with shingles anyway, but this was over and over again!
I was diagnosed after developing a catastrophic ENT infection which put me in hospital twice, and for a while, cost me my hearing. I still wear hearing aids, but a lot of my ability to hear has come back now I'm not completely clogged up with mucus all the time!
Best wishes,
Gillie.

[liz2mac]

Hi all,
the time it takes to diagnose us is terrible, the things we have to go through to get diagnosed can be awful too. Lets all work together to get the time of diagnosis down. Anyone else managed to get a poster into their GP's staff room?
Liz