Primary immunodeficiency disease (PI) is any defect of the immune system, which is inherited. There are over 100 forms of PI, and while the end result are sometimes much like those of HIV, PI is not contagious.
The various forms of PI range from mild to severe, to incredible dangerous. Severe forms of PI often show up in infancy and early childhood, but are overlooked by doctors who recognize and treat the infections such as bronchitis, pneumonia, ear infections, sinus infections, or diarrhea, but not the underlying cause.
When immunodeficiency goes untreated infections recur and can lead to disability, damage to vital organs, or even death. At the very least a person with undiagnosed PI will suffer a life of chronic illness, constantly getting infections, and being slow to recover.
Most PI can be detected by a simple and inexpensive blood test. Early detection and proper treatment can help most children with PI to lead normal, healthy lives.
When physicians fail to observe indications of PI, parents must take action. According to the National Primary Immunodeficiency Resource Center, anyone with two or more of the following warning signs should be tested for PI.
- Eight or more ear infections within one year
- Two or more serious sinus infections within one year
- Two or more months on antibiotics with little effect
- Two or more pneumonias within one year
- Failure of an infant to gain weight or grow normally
- Recurrent deep skin or organ abscesses
- Persistent thrush in mouth or elsewhere on skin after age 1
- Need for intravenous antibiotics to clear infections
- Two or more deep-seated infections
- A family history of Primary Immunodeficiency
There are 500,000 children and young adults in the United States known to have PI, and it is estimated that an additional half million have the disease but have not been diagnosed.
The most famous case of a child with PI was David Vetter “the boy in the bubble.” David had a form of PI called severe combined immune deficiency, which left him with no ability to fight off germs and disease. David’s doctors knew to look for the condition and respond to it immediately when he was born, because his older brother had died from the disease at seven months old. David died at the age of twelve following a bone marrow transplant. The bone marrow, donated by his sister Katherine, was contaminated with Epstein-Barr virus. David’s body could not fight the virus and he developed hundreds of cancerous tumors throughout his body.
Most cases of PI are not nearly as extreme. Less severe forms of PI are more likely to go undetected, because they are more easily mistaken for nothing more than ordinary infections. In addition to infections, PI can cause gastrointestinal problems and inflammation of the joints.
Currently there are several forms of treatment for PI including:
- Bone marrow transplant
- Intravenous gamma globulin
- Enzyme replacement
- Genetically engineered proteins
New treatments are being research and some, such as gene therapy look promising. Treatments for PI can also be beneficial to patients with other diseases and conditions involving the immune system including AIDS, cancer, fibromyalgia, asthma, and allergies.
If you or a loved one has been injured or killed due to failure to diagnose primary immunodeficiency, contact an experienced medical malpractice attorney today.
