Patients Survive Once Fatal Immune Disease

A Memphis, Tenn., study shows people with a immune-system disorder that prevents them from making antibodies nevertheless appear to be moderately healthy.

The study by scientists at St. Jude Children’s Research Hospital involved 41 adults with X-linked agammaglobulinemia, or XLA, disease. Researchers found the victims can function as relatively healthy, productive individuals, although they remain vulnerable to chronic, low-grade infections.

Until we did this study, there was almost nothing in the medical literature about adults with XLA, said Dr. Mary Ellen Conley, senior author of the study. In fact, old reports we read stated that the vast majority of these patients have chronic lung disease by age 15.

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. Treatment includes aggressive use of antibiotics and replacement of the missing antibodies with gamma globulin.