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Disease pathophysiology:
Each individual has his or her own blueprint, a map made up of millions of bits of information called genes. Sometimes there are malfunctions in this map. When it fails to produce a functioning immune system the disease resulting is called a primary immune deficiency (PI). Sometimes there may be a history of such a malfunction in the family, but often there is not.
Disease statistics:
There are more than 250 genetic defects and disorders of the immune system that are recognized as Primary Immunodeficiency. On average 1 in every 1,200 individuals are affected by this disease and early diagnosis and treatment are vital in saving lives. Others such as Severe Combined Immune Deficiency (SCID), occur in 1 in 50,000 – 70,000.
Disease treatment:
Antiviral drugs are given at the first sign of infection if people have an immunodeficiency disorder that increases the risk of viral infections (such as immunodeficiency due to a T-cell abnormality). These drugs include amantadine for influenza and acyclovir for herpes or chickenpox. Transplantation of thymus tissue is sometimes helpful. Gene therapy for a few congenital immunodeficiency disorders has been successful.