Rare autoimmune diseases Disorders

Sandra Welsh's daughter, Kylynn, 17, has a rare autoimmune disease that resulted in uncontrolled swelling so severe it closed her throat.By Anita Manning, USA TODAY

Just three months ago, Reagan Williams, 9, was dangerously sick with extremely high levels of sugar in her blood. Today she's back on her feet and enjoying her first days in fourth grade.

Last week, Kylynn Welsh, 18, was in critical condition on a ventilator in a New Jersey hospital, unable to breathe on her own because of swelling that closed her throat. On Sunday, she was released from the hospital and will soon be starting college.

These young people have very different illnesses with one thing in common: Their immune systems have gone awry.

Scientists say immune disorders, which range from common diseases such as juvenile diabetes or lupus to some so unusual that many doctors have never heard of them, are among the most mysterious of ailments, genetically complex and so diverse that estimating their true prevalence is a guessing game. But with major advances in genetics and exponential growth of knowledge about the immune system, scientists say important discoveries are tantalizingly within reach.

"The capacity to explore the human genome has reached the worker bee, " says John Harley of the Arthritis and Immunology Research Program at the Oklahoma Medical Research Foundation in Oklahoma City. "It has filtered down far enough that we now have the capacity to do experiments we only dreamed of 10 years ago."

Now, he says, "the whole range of human disease is going to be studied using this approach and will produce new clues that will be utterly transforming in our ability to manipulate the fundamental disease process."

Disorders of the immune system can be debilitating and expensive, and are likely to be much more common than previously realized.

But just how many people have them is not known, because such diseases are not tracked. The National Institutes of Health estimated in a 2005 report that 5% to 8% of Americans, up to 23.5 million, have one or more autoimmune diseases, which occur when the immune system launches an attack on healthy cells within its own body.

In the current issue of the Journal of Clinical Immunology, researchers estimate, based on a random telephone survey, that another group of immune disorders called primary immune deficiency diseases may afflict as many as one in 1, 200. In these diseases, caused by an inborn genetic defect, the body can't mount an effective immune response to infection.

"Almost every autoimmune disease, with the exception of rheumatoid arthritis, seems to be going up, " says immunologist Noel Rose, director of the Johns Hopkins Autoimmune Diseases Research Center. But whether that's because of an increase in disease or better recognition of cases is not certain.

Wonder of nature

The immune system is nature's built-in security force. When working properly, it detects an incoming attack upon the body, whether by viruses or other organisms, and mounts a protective response. When the invader is vanquished, it calls off the troops. But when that system malfunctions, the body's internal security force can lay down its arms or even turn on itself.

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Is HIV an autoimmune disease or an immunodeficiency disorder?

It's a viral infection which causes an immunodeficiency disorder; AIDS.

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