FAQ

What are PIDs

What are PIDs?

Primary immunodeficiencies (PIDs) are a large and growing group of over 300 different disorders caused when some components of the immune system (mainly cells and proteins) do not work properly. PIDs are generally recognised as rare disorders, however, the people whose lives are profoundly affected by these PIDS represent an important group worldwide.
More details in this video by Prof Helen Chapel:

What causes PIDs?

Our immune system is made up of an innate part and an adaptive part which interact together to help us fight infections caused by viruses, bacterias and other micro-organisms. When one or more parts of the immune system do not work very well this will lead to infections which can vary in their severity. Severe, persistent and recurrent infections can cause organ damage and be life threatening if not appropriately treated. In some cases the immune system is overactive or not properly regulated and can attack certain organs such as the lungs, liver, intestines or blood system.

What are the most common symptoms of having a PID?

PID patients start showing symptoms in childhood or adulthood.
The most common symptoms of a PID are severe, persistent, unusual and/or recurrent infections.
Some patients can show inflammation in the lungs, liver and intestines, autoimmunity issues, severe allergies and tumours.

Is there a cure?

A large majority of PIDs are chronic conditions which require life-long replacement therapy with immunoglobulins. They are manageable conditions but, while there have been medical advances, so far most of these are not curable.
For the most severe forms of PIDs such as Severe Combined Immunodeficiency (SCID) there is a cure. Bone marrow transplantation or gene therapy can cure SCID patients but, for the procedures to be successful, they are best performed within the first three to four months of life before severe infections have occurred. This is why IPOPI is dedicated to implementing newborn screening for SCID.

If PIDs are genetic how can my parents/children not have it?

By definition, primary immunodeficiencies are due to genetic defects. Sometimes parents can be perfectly healthy but carry a mutated gene and while some children may develop the conditions others may not.
PIDs can have an autosomal recessive origin (gene defect passed from both carrier parents thus causing the disease) or an autosomal dominant origin (gene defect passed by one parent).
PIDs such as CVID are sporadic and occur in people with no apparent history of the disorder in their family. These PIDs probably result from a complex interaction of environmental and genetic factors. A review of family history, laboratory tests and genetic diagnosis should be performed as they can help identify the type of inheritance pattern.

Diagnosis of PIDs

How are PIDs diagnosed?

Diagnosis of a PID is a process that always starts by paying attention to the clinical signs and by doing simple blood tests (complete blood count, immunoglobulin levels). Often, patients might show symptoms related to infections, autoimmunity or inflammation and, after a few recurrences, the attending doctor refers the patient to an immunologist or to a reference centre. Many factors are considered, such as the clinical history of the patient and family clinical history.
Ideally, the definitive diagnosis should include a genetic test to identify the faulty gene.

How do I get a definitive diagnosis?

To get a definitive diagnosis a genetic test should be done to identify the faulty gene.
In countries with few resources sometimes it might not be possible to get a definitive diagnosis. Identifying that there is an immunological problem with the patient is enough to administer treatment and maintain the health of the patient. Attending physicians can get in touch with other hospitals outside their region or country to pursue a definitive diagnosis.

I have been seen by an immunologist but I would like to get a second opinion. How can I do that?

Your first point of contact should be your attending doctor.
You can also visit the IPOPI PID Map where you can find IPOPI’s NMOs’ contact details and medical contacts from most countries around the world.
Some immunologists might not have experience with PIDs as they are rare conditions. Make sure you also check our list of National Member Organisations who will be able to point you in the right direction. If there is no national member organisation in your country don’t hesitate to contact IPOPI.

Access to treatment

How can I find a doctor?

Seek the support of the IPOPI National Member Organisation (NMO) in your country who will be able to provide guidance. If there is no NMO in your country, do not hesitate to contact IPOPI.
Visit the IPOPI PID Map section where you can find IPOPI’s NMOs’ contact details and medical contacts from most countries around the world.

Where do PID patients get medical care?

This varies greatly, depending on which country you live in. Patients have their family doctor or their immunologist as a main point of contact. The frequency in which they visit the medical care facility will depend on their specific condition and the type of treatment they are getting. Many patients receiving intravenous immunoglobulin will go to the medical care centre (usually once a month) while patients on subcutaneous immunoglobulin who can administer it at home (usually on a weekly basis) will only need medical assistance in the event of an infection or of another medical event.
Immunology nurses are often the first line of contact with PID patients as they assist those who receive treatment at the medical care facility and teach others how to do it at home.

There aren’t treatments for PID patients in my country/ region. What should I do?

The first thing to do is to check if a PID patient support group already exists in your country. If so, try to get involved; if not, perhaps you can gather the support of other patients and of immunology doctors to start one. Reach out to IPOPI and share your concerns, we are here to help you come up with a plan!

I have heard about Gene Therapy and Bone Marrow Transplantation. Who is elegible for these treatments?

Bone marrow transplantation is reserved for those patients with severe forms of immunodeficiency where immunoglobulin replacement or other treatments are not enough. This is because a BMT can be a risky procedure in itself and it should not be undertaken unless it is really needed. BMT works by replacing the patients own faulty immune system with bone marrow from a healthy donor so that a new immune system can grow. The treatment works best when a matched donor is available but still has risks associated with the use of chemotherapy and a condition termed graft versus host disease (GvHD) where the donor cells see the patient as different and start to attack liver, lungs and gut.

Gene therapy involves inserting a working copy of the gene into the patients’ own cells thus avoiding GvHD. Gene therapy is currently only available in a few specialised centres for four different immune diseases but is being developed for a number of other conditions.

Why aren’t all types of immunoglobulin replacement therapy available everywhere?

Availability of pharmaceutical products depends on many factors. After extended research and clinical trials, pharmaceutical companies request marketing authorisation from competent authorities. Once granted, companies then negotiate prices and conditions with governments and hospitals.
Immunoglobulin replacement therapy is a costly treatment but it is widely proven to be cost-effective for governments/insurers to cover it for patients. It is also listed by the World Health Organisation (WHO) as an essential medicine and as such IPOPI and its NMOs advocate for IG therapies to be made available to PID patients in all countries

I do my treatments as prescribed but I still get infections. Should I change my treatment?

Each person is different and will respond to treatments differently. Refer to your attending doctor and evaluate, as a team, what can be done. An individualized treatment plan is key to ensure you get the best, most suitable treatment to your needs. Such a plan should be discussed with your doctor.

I feel fine, maybe I no longer need to receive treatment?

Immunoglobulin replacement therapy is exactly that, a replacement for something your body isn’t producing. If you feel fine that is great! But that means that you and your doctor found a good solution for you and that your trough levels are being maintained. If you were to stop receiving treatment your body would no longer be able to fight infections and you would be putting yourself at risk. In case of doubt always talk to your doctor.

I would like to try a different type of treatment administration. Where can I get more information?

IPOPI has some leaflets on these topics, you can find them here.
However, a decision to change your treatment should not be made lightly. Always talk to your doctor to ensure the best decision for you is made.

If immunoglobulins come from plasma and plasma comes from blood, can my IG treatment give me a viral infection such as what happened to haemophilia patients in the 80s?

Plasma-derived therapies are life-saving treatments used to treat various rare conditions, including PIDs. They are developed from donated human plasma. Immunoglobulin replacement therapy (IG Therapy) is the main plasma-derived therapy used to treat PIDs. The vast majority of plasma products produced by the main manufacturers are subjected to European Medicines Agency’s (EMA) or/and United States Food and Drug Administration’s (FDA) approval and have proven to be safe, with no viral transmission since 1994. IG therapies have an excellent safety record. While all biological products carry a very small risk of infection, the risk with immunoglobulins is minimised by the following steps:

  • Donor selection: Selection procedures ensure that donors are healthy
  • Testing: Donations are tested and contaminated donations rejected
  • Virus elimination: Additional steps during the production process ensure viruses are inactivated and/or removed.

Can I pass it on to my children?

Depending on the type of PID, one or both parents may be a carrier or not. Being a carrier may not necessarily mean you will pass your condition to your children. Genetic counceling should be sought to access your specific situation and to know if carrier detection is available in your case or not.

Living with a PID

Should I tell my friends, family, work/school I have a PID?

Telling those around you about your PID condition is a personal decision and no patient is ever required to disclose it at school or work. However, PID patients’ school and work lives may be affected by the condition and letting others know will often benefit the patient.
Schools’ headmasters and schools’ nurses should receive relevant information about PID from the patient’s parents. IPOPI has a dedicated leaflet on the topic.

I feel like those around me think I am faking my condition. What should I do?

PIDs are invisible illnesses which makes them more difficult to understand for some people. Share information with those around you and give them practical examples. For example, explain why you might need to avoid crowded places.

How is the transition from paediatric care to adult care done in the case of PID patients?

Some countries, like the UK and France, have put in place robust transition systems for PID patients. Paediatricians, adult specialist doctors and nurses will exchange information and, when possible, someone from the adult clinic, normally a nurse, will go over to the paediatric clinic to meet the patient and prepare the transition.
In other settings there might only be an exchange of information and a welcome to the new patient in the adult clinic. The patient and the family should feel free to ask all the questions necessary and help the staff from both clinics to get in touch.
Transitioning to an adult clinic also means a bigger involvement of the young patient in the treatment and health decisions. It is important that the patient understands the importance of treatment compliance as a direct benefit for his/her health.

The costs of my treatment and care are too high. What can I do?

Consult with the national PID patient group as they are better positioned to advise you on local strategies and support. Have a look at the IPOPI PID Map to find the national PID patient group.

I fear I might lose my job because of my condition. What should I do?

First, understand your rights by consulting with the local patient group or the relevant local authorities. Second, approach the issue with your employer in a constructive and positive manner.
Nowadays there are many options, such as working from home (totally or partially), reducing your working hours, etc.

Between medical appointments, treatments and personal life I am feeling like my condition is very difficult to cope with. Is this how I will feel for the rest of my life?

Coping with a chronic medical condition is different for every patient. While for some it is more about juggling their treatments and medical appointments, for others the psychological aspects play a heavier role.

Can PID patients travel and live abroad?

PID patients can travel and live abroad. The key factor is preparing everything in advance as some bureaucratic processes can take some time. Always consult with your doctor in case you have any doubt before planning a trip.
Check if there is an IPOPI NMO where you are going to visit or live as they are the most valuable contacts in that country.
It is important to check if you are medically covered in the country you are visiting. For some patients that means checking their insurance coverage while others will need to get a national healthcare system card. It is helpful to get in touch with an immunologist or reference centre ahead of the trip.
Ask your doctor to write a letter explaining what condition you have and what your requirements are. This serves the purpose of explaining to any doctor what you need and why you may need to carry medication and devices with you.
Some countries require visitors to take specific vaccines, such as the vaccine for yellow fever. Most PID patients should not receive live-attenuated vaccines because of the risk of contracting the desease. IPOPI published a leaflet on vaccines, you can read it here.

Patient registry and medical research

My doctor asked me if he could add my details to the PID registry. What does this mean and who can access this information?

An increasing number of countries have put in place a national PID registry. There are also some regional registries such as the ESID (European Society for Immunodeficiencies) registry which bring together data from national registries.
PID registries are databases which contain information from diagnosed PID patients including specific details of their conditions, treatment, response to medication, etc. The data is usually entered by the patient’s doctor and kept updated and handled confidentially. The names of the patients are kept confidential but, if in doubt, ask your doctor for more details.
While this might seem like you are sharing a lot of private information, registries are vital tools not only to assess the prevalence and incidence of PIDs but also to advance scientific research and to aid decision makers make informed decisions about the provision of treatments for PID patients. IPOPI strongly promotes the use of registries to advance PID diagnosis and care as well as compatibility of registries across different regions to foster international research collaborations.

How can I help in scientific research?

The first step to help with scientific research is to ask your doctor if he/she has registered you in the local or regional PID registry.
Answering surveys conducted by patient groups and hospitals is also a great way to get involved and contribute to data collection.
PID reference centers can provide more information on clinical trials’ participation.

Getting involved with IPOPI

How can I get involved with IPOPI?

IPOPI is an international association of national PID patient groups. Check here if there is an NMO in your country and reach out to them. If there isn’t a group yet, reach out to us at info@ipopi.org