Spot the signs of immune system disorders
Print Edition
The week from April 22 to 29 is the first World PI Week, a global campaign aiming to raise awareness and improve diagnosis and treatment of primary immunodeficiencies, or PI.
A series of lectures and activities will be held at the Children’s Hospital of Fudan University, the nation’s only hospital with specialized wards for PI patients. The hospital identifies over 200 new PI patients from all over the nation annually.
Primary immunodeficiencies are disorders in which part of the body’s immune system is missing or does not function normally. Most primary immunodeficiencies are genetic disorders; the majority are diagnosed in children under the age of 1, although milder forms may not be recognized until adulthood.
There are more than 200 known PI diseases. Although the total number of patients isn’t known, the incidence rate is estimated at one in every 3,000 to 5,000 people. With proper treatment most children with PI can live normally.
Some forms of primary immunodeficiency are so mild they may go unnoticed for years. Other types are severe enough that they’re discovered almost as soon as an affected baby is born.
Dr Wang Xiaochuan, director of the hospital’s clinical immunity department, says frequent infections in infants and young children can be sign they have a PI.
“While many types of primary immunodeficiency disease have been identified, all types share similar symptoms — notably recurring, frequent infections that can be long-lasting and severe,” Wang said.
“If two or more of these warning signs exist, people had better visit an expert to check the possibility of primary immunodeficiencies,” he said.
Wang says he received a 2-month-old boy who was hospitalized with pneumonia. He received bacille calmette-guerin shots upon delivery and a festering wound developed at the point of injection.
Further tests confirmed he had a PI disorder. His elder brother also had frequent fevers and died at the age of 8 months.
PI diseases are caused by the mutations of genes that control the immune system. Some mutations are genetically acquired while others develop after birth.
“There are some misunderstandings about PI diseases among the public,” Wang said. “Many parents believed that PI is a rare and very serious disease. Though current detection is not high, there are many disease types and patients remain unidentified and undiagnosed. Visiting a specialist when warning signs appear is the key to proper diagnosis and treatment.”
PI diagnosis in China is in the primary stage as many hospitals don’t have the ability to make a proper diagnosis. Only hospitals in major cities like Shanghai and Beijing can diagnosis PI diseases.
Apart from checking a child’s medical history and clinical symptoms, PI disease identification greatly depends on lab work including tests on immunity function, blood and genes.
Genetic test results help doctors provide the best treatment.
“PI treatment varies depending on the exact disease, symptoms and cause,” Wang said. “Parents should know that the majority of PI diseases can be controled and the children can grow up, study and work like normal people, though the treatment is a long process and requires frequent hospital visits.
“Some PI diseases can even be cured with a stem cell transplant.”
10 warning signs of PI
According to the American Center for Disease Control and Prevention and the Jeffrey Modell Foundation, a global non-profitable charity organization for PI prevention and control, there are 10 warning signs.
1. Two or more ear infections within 1 year
2. Two or more sinus infections within 1 year in the absence of allergy
3. One case of pneumonia per year for more than 1 year
4. Chronic diarrhea with weight loss
5. Recurrent viral infections (colds, herpes, warts, condyloma)
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 primary immunodeficiency disease.
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