Here we post questions patients have asked us about X-linked agammaglobulinemia (XLA). Please do not hesitate to get intouch with usif you have a question.
Q. My son has XLA and my partner and I are planning to have another child. What are the options for conceiving a child unaffected by XLA?
A.If you have a child with XLA you can have Prenatal Genetic Diagnosis (PGD) which has been approved by the Human Fertilisation and Embryology Authority (HEFA). You will need to speak to your son’s immunologist who will refer you to a genetics team who will be able to advise on the pros and cons of PGD.
Q. Both my sons have XLA and one of them has 4 boys. Is it possible that my grandson has XLA?
A.XLA is an inherited condition, meaning it is passed down through the generations. It follows what is called an X-linked recessive pattern of inheritance, with transfer of a defective gene on one of the two X chromosomes of a mother to a son. In answer to your question affected fathers can have carrier daughters but their sons will not be affected by XLA or be carriers of the condition.
You can find out more information about the inheritance of XLA in these two booklets –Genetics of PIDand theXLA condition specific booklet.
Q. My son has XLA, can I get a medical exemption certificate for him?
A. Currently primary immunodeficiencies are not covered by the medical exemption certificates in order to get free prescriptions but this is something Immunodeficiency UK is campaigning for with the Prescription Charges Coalition. Please check thisweb page to see if your son might qualify for free prescriptions via another route.
Q: My son has XLA and has unilateral deafness. At school, his teachers are reporting him as being very tired and showing a lack of concentration. Does he need extra support at school?
A.Fatigue is commonly associated with chronic disorders and is not specific to having a PID, but is frequently seen in it. However, it is uncommon for children with well-managed XLA to have primary fatigue. Unilateral deafness is also linked to concentration fatigue (the National Deaf Children’s Societywebsitehas more information) and special provisions may be needed in class to ensure your son is able to hear the teacher well. Thiswebpagegives advice on what these could include.
Both having a PID and having unilateral deafness are covered under theEquality Act. This emphasises a legal duty on education providers to make reasonable adjustments so that any special arrangements can be made. Also visit our webpage coveringdisability and PIDfor more information.
It might also be useful to speak again with your clinic to more fully discuss the deafness with the team looking after your son. A paediatric immunodeficiency service will be part of a larger hospital with services to support sensory deficit and would agree that your son’s needs require a fuller assessment. This would further strengthen your case for support in school.
Q. How many people per year are diagnosed with XLA?
A.This is not known at present. At the moment this incidence data is not readily available and there is still no way of capturing that in the UK reliably yet.
Q. How many people are currently affected by XLA in the UK?
A.About 1 in 100,000 people have XLA.
Q. What causes XLA?
A.A genetic change in the btk (Bruton’s Tyrosine Kinase) gene causes XLA. This gene makes the enzyme Bruton’s tyrosine kinase, which is needed to instruct B-cells to mature and produce antibodies.
Q. What is the life expectancy of a person with XLA?
A.The life expectancy of people with XLA is normal – the same range as that for the general population.
Q. For XLA what tests will be undertaken regularly to ensure that there are no other health issues going on?
A.Doctors will monitor those affected for infection and the consequences of any infection. It’s important to attend any regular check ups. This is essential as reduced immune surveillance may increase cancer risk above the normal healthy population e.g. chronic gastritis may cause stomach cancer and colon cancer. All XLA patients are monitored regularly using the appropriate tests as needed.
Q. What can we do to improve the general health of a person with XLA?
A.Following a healthy diet, avoiding getting infections and seeking help promptly when an infection happens will help keep you well. Take a look at‘Keeping well and healthy when you have a PID’.
Q. Is there any point in taking supplements to boost what immune system XLA patients have?
A.There isn’t any evidence-based information on the use of supplements in XLA. Doctors will be keen to rule out if there are any deficiencies due to diet that could lead to secondary immune problems.
Q. How effective is immunoglobulin as a long-term treatment for XLA?
A.Immunoglobulin therapy is a highly effective therapy and those affected are able to live a normal healthy life if it is started early in childhood before any recurrent infections set in.
Please take a look at our FAQs on immunoglobulin treatmenthere.
Q. Is there any treatment for XLA other than immunoglobulin?
A.Not at the present moment.
Q. Are there any plans/studies for gene therapy for XLA?
A.There are no clinical trials of gene therapy for XLA at present. However, there is quite a bit of work ongoing in the laboratory and so trials may start in the not too distant future.
Q. Are there any activities people with XLA should avoid?
A.No. There are some simple precautions that should be taken to avoid getting infections. Take a look at this webpage on‘Keeping well’and follow safety advice forgoing on holiday.
Q. Can people with XLA travel safely?
A.Yes absolutely. Take a look at our‘Going on holiday’section. People planning to take long vacations (over 3 weeks) need to arrange to have their treatment in the country they are staying in.
Q. Should we expect our GP to be knowledgeable about PIDs/XLA?
A.Unfortunately not. Collectively PIDs are rare and XLA even rarer. It is often down to parents and individuals to bring their GPs up to speed. They can do that by pointing them to sources of reliable sources information such as the Immunodeficiency UK website.
Q. Is there a way we can find out what research work is being undertaken about XLA?
A.One way is to ask your immunology centre if they are involved in any research. Also you can use the search engine calledPubmedand find papers related to XLA by putting in X-linked agammaglobulinemia or XLA in the search box. Immunodeficiency UK will also do its best to keep you updated on the results of any new research that is going on via its website.
Q. How it is passed down genetically?
A.XLA is an X-linked recessive condition and so affects boys. Female members in an affected family may carry the gene and so mothers, maternal aunts and sisters may be carriers and should receive genetic counselling – the sisters once they are old enough to give informed consent.
Q. What are the chances of passing on XLA to our children?
A.Affected males will pass on the faulty gene to all of their daughters, who will be carriers of XLA, but their sons will not be affected by XLA or be carriers of the condition.
Q. Can XLA patients have genetic counselling?
A.Yes. Female members in an affected family may carry the gene and so mothers, maternal aunts and sisters may be carriers and should receive genetic counselling – the sisters once they are old enough to give informed consent. Genetic counsellors will advice on family planning issues and prenatal genetic diagnosis is available for families in which XLA has already been diagnosed.
Q. I am a mum with sons affected by XLA. Should I tell my sisters and other relatives that they should be tested for PID?
A.Yes your sisters may be carriers and if they have sons they should be tested. Please take a look at ourXLA information sheetand information on genetic inheritancehere.
Q. I have XLA and my daughter is a carrier of XLA. What are the chances of her sons, my grandsons, having XLA and can they get treatment before they are born?
A.There is a 50/50 chance that a male child will be born with XLA. It is possible to test if the baby has XLA using non-invasive prenatal testing. It is not possible to give treatment before the baby is born to correct the inherited problem.
Q. Which vaccines can be given and which cannot for XLA?
A.In XLA, the aim is to achieve a T-cell response, since there are no B-cells to make antibodies. There are no specific contraindications, but many vaccines may not be helpful if they do not elicit good T-cell based protection. You should discuss immunisation with your centre.
