Primary Immune (PIA) inodeficiency Assocation Archive

Questions about primary immunodeficiences

 

What are primary immunodeficiencies? How many people are affected by these conditions? What is the cause? How serious are these conditions? What is the treatment? What about gene therapy? Is there any connection with AIDS? Some of the primary immunodeficiency.

 

 What are primary immunodeficiencies?

The primary immunodeficiencies are a group of incurable conditions that affect the . A person who has one of these conditions has little or no natural defense against infections. He or she can experience a variety of problems, ranging from recurrent colds and other respiratory ailments to heart problems, pneumonia,, skin disorders and arthritis…

The comparative rarity of these conditions means that some people remain undiagnosed for many years, resulting in organ damage and even disability.

“I wasn’t diagnosed until I was about 50. The doctors realised that I had probably had this condition since the age of about six months – and possibly from birth.” (Adult with CVID)

How many people are affected by these conditions?

It is difficult to give an exact figure. The primary immunodeficiency have been described only within the last 60 years and are still not widely known within the medical profession. However, awareness has increased in recent years, and the numbers of people being diagnosed are rising. It is likely that there are at least 5,000 cases in the UK, a figure similar to haemophilia.

What is the cause?

In many cases the causes are not clear. However, research is increasingly finding abnormal genes at the root of primary immunodeficiencies. Gene abnormalities are inherited, which is why in many disorders the immunodeficiency is passed down through succesive generations of a family. In other disorders this is not so clearly the case, but the hunt for abnormal genes is still proving to be a very fruitful line of research.

It is important to realise the primary immunodeficiencies are not infectious, and cannot be transmitted to others by contact.

How serious are these conditions?

The effects of a primary immunodeficency can be devastating. For example, a baby born with Severe Combined Immunodeficiency faces death within a few months of birth, or isolation in a sterile environment until a bone-marrow transplant can be carried out. Even for a child with a less severe disorder, prolonged periods of ill-health can disrupt schooling and social contacts.

For an adult, frequent debilitating illnesses can make it impossible to pursue a career or enjoy family life. There can be psychological problems, too. Feelings of isolation, the fear of losing one’s income, or the anguish of caring for a sick child can be immense.

“The agony of seeing your child almost die from a life-threatening infection is too horrendous to put into words. We feel every pain with him.” (Parent of a child with Neutropenia)

However, the good news is that, with early diagnosis and effective treatment, many people with primary immunodeficiency are able to enjoy fit and active lives.

“Despite all my medical problems, I have has a very normal life. I married and have two strappingly healthy offspring, and am now a grandmother. I also held down a demanding job for over 30 years.” (Adult with CVI)

What is the treatment?

There is currently no known cure for primary immunodeficiency. The most important consideration for a person with one of these conditions is to receive expert care and advice from a consultant immunologist at one of the specialist centres in hospitals throughout the UK.

Some people need only periodic doses or small daily doses of antibiotics. For people with antibody deficiency, it is possible to replace the missing antibodies with regular infusions of immunoglobulin prepared from pools of donated blood plasma. The infusions are effective in helping to maintain good health and prevent damage (or halt further damage) caused by repeated infections.

Many people are being trained to administer their immunoglobulin infusions themselves through ‘home therapy’ programmes, which allow for a more flexible and independent lifestyle.

‘I was incredibly ill until the age of 12 with chest problems, arthritis and perforated ear-drums. Now, with immunoglobulin infusions, I play sports, go to concerts, travel and ski.’ (Adult with Hyper-IgM Syndrome)

Even with treatments such as those outlined above, people with primary immunodeficiency are prone to infections. A constant awareness of infection is essential. Minor ailments need to be treated promptly witht he correct antibiotics, so that they do not develop into serious illnesses.

‘In many ways our lives are very normal, and in many ways they are not. There are Christmas plays, parents’ evenings, trips to the superstore and the park. And yet, we have regular appointments with nine consultants.’ (Mother of a child with DiGeorge Syndrome)

What about gene therapy?

The discovery of the genes responsible for some forms of primary immunodeficiency has opened up the possibility of replacing the defective gene with a ‘normal’ copy. However, such a cure lies in the future.

Is there any connection with AIDS?

No. AIDS is a secondary, or ‘acquired’, immunodeficiency caused by infection with the human immunodeficiency virus (HIV), which attacks a previously healthy immune system. In contrast, primary immunodeficiencies are caused by the intrinsic failure of the body’s immune system to fight of infection.

Some of the primary immunodeficiencies

Over 80 conditions have been identified, including:

Antibody Deficiency. The most common subgroup of conditions. The immune system fails to produce sufficient antibodies to fight bacterial infections, particularly chest, sinus and ear infections. The conditions include Common Variable Immunodeficiency (CVI), which can affect both sexes, and X-Linked Agammaglobulinaemia and Hyper-IgM Syndrome, which follow a sex-linked pattern of inheritance and usually affect only males.

Severe Combined Immunodeficiency (SCID). The most serious of all the conditions, caused by the failure of both the T-cell and B-cell systems that fight infections and make antibodies. SCID is characterised by severe infections. SCID has a genetic basis.

Neutropenia. Caused by a reduction in the numbers of neutrophils, the ‘scavenging’ cells that kill most micro-organisms that enter the body. Symptoms include skin and lung infections, ulcers and septicaemia.

Complement Deficiency. A subgroup of conditions associated with deficiencies in a group of proteins the help neutrohils to engulf bacteria. Characteristics of these conditions include meningitis and disorders of the kidneys, joints and skin.

Chronic Granulomatous Disorder (CGD). Caused by abnormalities in the neutrophils. People with CGD are susceptible to infections of the lymph glands, chest and skin, which can develop into abscesses. They are also very susceptible to fungus infections. CGD has a genetic basis.

Wiskott-Aldrich Syndrome. A complex condition characterised by infections of the ear, sinus and chest; spontaneous bleeding and bruising; and eczema. The genetic abnormality at the root of this condition has recently been defined.

DiGeorge Syndrome. A condition in which the thymus gland (which helps in the development of T-cells) is missing. Symptoms include viral and fungal infections. There are associated heart defects and muscular spasms caused by a low level of calcium in the body. Learning difficulties are also common.

“Anyone who has a primary immunodeficiency is going to face problems; however, it is very important to be positive about your health and say ‘this is not going to beat me’.” (Adult with Hyper-IgM Syndrome)

Disclaimer The Immune Deficiency Patient Group Wales did not initially publish or approve these documents, and in hosting them now does not take responsibility for their content. It is intended for general guidance only, and should not be used in place of the personal consultation needed with your GP or consultant immunologist.