Often known as the “bubble boy” disease, Severe Combined Immune Deficiency (SCID) is a fatal primary immune deficiency unless it is diagnosed at birth and an immediate bone marrow transplant performed.
David Vetter, the “bubble boy”, was kept in an isolated environment for 12 years, waiting for a bone marrow transplant (BMT). He received a BMT at the age of 12, but died soon after.
Although rare, infant mortality due to SCID still occurs in Australia. It presents from birth and an immediate BMT is needed. Many babies born with SCID are not diagnosed correctly, or early enough, which is why IDFA is advocating for newborn screening for SCID. Support our advocacy campaign for SCID newborn screening.
What is a Primary Immune Deficiency (PID)?
An immune deficiency is also commonly referred to as an immune disease, immune disorder or immunodeficiency. An immune deficiency is a disorder where the immune response is reduced or absent. Primary Immune Deficiencies (PID’s) are caused by defects in the genes that control the immune system, so people with PID are born missing some or all of the parts of the immune system. PID’s are not related to AIDS.
Almost everyone has had a cold, the flu, or sinus and ear infection. Almost everyone has had a cut, graze or abrasion that has become infected. Even in a severe infection such as pneumonia, the cough and congestion usually ‘runs its course’, aided by prescription antibiotics, over-the-counter remedies and our body’s own immune system. The human body’s usual response is to rid itself of an infection and work to defend itself against future “bugs” and viruses.
There are instances in which the body cannot recover, and some of these apply to people with a PID. Some PID’s are fatal while others are mild. One of the most important functions of the normal immune system is to protect us against infection. Unfortunately, patients with PIDs have an increased susceptibility to infection.
While not contagious, these diseases are caused by hereditary or genetic defects and can affect anyone regardless of age or sex. There are over 400 primary immunodeficiency diseases – some relatively common, others quite rare. Some affect a single cell within the immune system; others may affect one or more components of the system. And while the diseases may differ, each results from a defect in one of the functions of the body’s normal immune system.
The immune system is made up of a network of cells, tissues, and organs that work together to protect the body. In PID, the organs affected by PID include: Skin, Sinuses, Middle Ear, Thyroid, Lungs, Spleen, Bowel and Blood. Infections may also be in the throat, brain, spinal cord or in the urinary tract. People with primary immunodeficiency diseases live their entire lives more susceptible to infections–enduring recurrent health problems and often developing serious and debilitating illnesses. If not diagnosed early, the organs become permanently damaged. Even with treatment, the damage cannot be reversed.
Many people with PID also have autoimmune conditions such as chronic sinusitis, bowel disease, thyroid disease, lupus and arthritis.
10 warning signs
Many people with primary immune deficiency diseases experience similar symptoms. These 10 warning signs are:
1. Eight or more ear infections within one year
2. Two or more serious sinus infections within one year
3. Two or more months on antibiotics with little effect
4. Two or more pneumonias within one year
5. Failure of an infant to gain weight or grow normally
6. Recurrent deep skin or organ abscesses
7. Persistent thrush in mouth or elsewhere on skin after age one
8. Need for intravenous antibiotics to clear infections
9. Two or more deep seated infections such as sepsis, meningitis or cellulitis
10. Family history of primary immune deficiency
- There are over 400 known PID’s.
- PID affects at least 10 million people worldwide – Source: US Department of Health and Human Services. National Institute of Health 2009
- Can affect anyone, regardless of age, sex, ethnicity
- Vary in severity depending on whether one or several parts of the immune system are affected
- It is estimated that 70 – 80% of PID’s remain undiagnosed globally – Source: American Association for the advancement of Science 2007
- For the majority of PID’s, there is no cure
- PID’s can be successfully treated
IDF Patient and Family Handbook – Australasian Edition is a 250 page reference book about primary immune deficiencies.
Please consider a donation to IDFA for the postage of this resource ($15 each)