Primary Immune Deficiency

What are Primary Immune Deficiencies?

Primary immunodeficiency disorders (PIDs) form a  group of rare disorders that vary widely in severity. Those at the mild  end of the spectrum can predispose infants and children to frequent minor  infections, while the more severe ones lead to life-threatening  infections and other life-limiting complications. In some cases the deficiency  resolves with increasing age, but in most cases these are lifelong disorders  that require treatments to prevent infections and treat other complications,  and in some cases need aggressive treatment to correct the underlying problem.
(taken from www.centreforimmunodeficiency.com)

How many people have PID?  Can I catch it?

It is estimated that there are around 5000 people in the UK who have a PID.  Unlike some secondary (or “acquired”) immune deficiencies such as HIV, PIDs cannot be transmitted or caught.  They are genetic conditions which in most cases are present from birth.

What are the different types of PID?

There are around 80 different PIDs, some of which are listed below.  You can click on any one condition which will take you to an explanation of that particular PID on the website of the Immune Deficiency Foundation (http://primaryimmune.org).  I was diagnosed with CVID in 1999 and you can find a detailed account of my experience of living with CVID by clicking on the “My Story” page above.  I will also be touching on it throughout my blog.

Common Variable Immune Deficiency
X-Linked Agammaglobulinemia
Selective IgA Deficiency
Severe Combined Immune Deficiency
Chronic Granulomatous Disease
Wiskott-Aldrich Syndrome
Hyper IgM Syndrome
DiGeorge Syndrome
IgG Subclass Deficiency and Specific Antibody Deficiency
Ataxia Telangiectasia
Hyper IgE Syndrome
Complement Deficiencies
Other Important Primary Immunodeficiency Diseases

How would I know if I had PID?
One of the biggest challenges for people who have a PID is the battle to get a correct diagnosis.  For many it takes years, and often people develop additional complications due to the delay in diagnosis and treatment.  Some people with PIDs refer to themselves as “zebras”.  Medical students are often taught “if you hear hoofbeats, look for horses”.  In other words, weigh up a patient’s symptoms and look for the most obvious diagnosis.  We “zebras” though, depend on finding a doctor who realises the hoofbeats might not actually be coming from horses at all, but a far rarer creature.

Much work has been done by various PID support organisations to raise awareness of PIDs within the medical professional and therefore improve diagnosis.  To this end, the “Ten Warning Signs of Primary Immunodeficiency” were developed:

Children:

  1. Four or more new ear infections within 1 year.
  2. Two or more new sinus infections within 1 year.
  3. Two or more months on antibiotics with little effect.
  4. Two or more pneumonia’s within 1 year.
  5. Failure of an infant to gain weight or grow normally.
  6. Recurrent, deep skin or organ abscesses.
  7. Persistent thrush or fungal infection on skin or elsewhere.
  8. Need for intravenous antibiotics.
  9. Two or more deep-seated infections including septicaemia.
  10. A family history of PID.

Adults:

  1. Two or more new ear infections within 1 year.
  2. Two or more new sinus infections within 1 year, in the absence of allergy.
  3. One pneumonia per year, for more than 1 year.
  4. Chronic diarrhoea with weight loss.
  5. Recurrent viral infections.
  6. Recurrent need for intravenous antibiotics to clear infections.
  7. Recurrent, deep abscesses of the skin or internal organs.
  8. Persistent thrush or fungal infection on skin or elsewhere.
  9. Infection with normally harmless tuberculosis-like bacteria.
  10. A family history of PID.

(developed by the Jeffrey Modell Foundation Medical Advisory Board)

Who is supporting people with PID?

There are a number of international organisations working to support, represent and advocate for people who have PID.  You will find various links on this page.  The PID patient support charity in the UK closed earlier this year, but a new patient support group called UKPIPS (UK Primary Immunodeficiency Support) has emerged.  Unlike the previous charity, UKPIPS is run by patients for patients.  Their mission is:

“To provide information, advice and support to people living with a Primary Antibody Deficiency (PAD) or any other Primary Immune Deficiency (PID).” (http://www.ukpips.org.uk/about/aims-objectives/)

UKPIPS has already done some excellent work, including providing a discussion forum which enables patients to connect to others who have this rare condition, and offer each other encouragement, advice and moral support.

What can I do to help?

The Ten Warning Signs have recently been further developed by the UK Primary Immunodeficiency Support group (www.ukpips.org.uk) and they have now created a poster called The Power of Ten.  They are aiming to have this poster displayed throughout the UK in as many GP practices as possible.  If you do just one thing to help people like me make it this: click the following link, print the poster and ask your GP’s surgery to display it http://www.ukpips.org.uk/pdfs/the_power_of_ten.pdf

2 thoughts on “Primary Immune Deficiency”

  1. Pingback: When I Grow Up I Want To Be Like My Children | through accepting limits

Leave a comment