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Patients now surviving once-fatal immune disease

Individuals who have a rare genetic immune system disorder that prevents them from making antibodies nevertheless appear to be moderately healthy and lead productive lives, according to results of a study by investigators at St. Jude Children's Research Hospital. A report on this study appears in the current online edition of Clinical Immunology.

The study of 41 adults with X-linked agammaglobulinemia (XLA) showed that they can function as relatively healthy, productive individuals, even though they remain vulnerable to chronic, low-grade infections. These individuals had a mean age of 4 years (range 1 month to 53 years) when their diseases were diagnosed; and 27 of the patients had family histories of XLA. The study was based on results of a questionnaire filled out by each participant concerning current and past medical problems and quality of life.

"Until we did this study, there was almost nothing in the medical literature about adults with XLA," said Mary Ellen Conley, M.D., a member of the Department of Immunology at St. Jude and senior author of the report. "In fact, old reports we read stated that the vast majority of these patients have chronic lung disease by age 15. We and other physicians were quite surprised at how well these patients are doing with the proper care."

XLA is a rare disease that is inherited through a mutation in the Btk gene on the X-chromosome--one of the two types of sex chromosomes. Males with this disease have very low levels of infection-fighting proteins called antibodies. Treatment includes aggressive use of antibiotics and replacement of the missing antibodies with gamma globulin.

"Almost all of the adults with XLA had chronic medical problems; however, these problems did not interfere with normal daily activities, and the quality of life in this group was equivalent to that of the general male population of the United States," said Vanessa Howard, R.N., M.S.N., a nurse practitioner for the Immun
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Source:St. Jude Children's Research Hospital


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