MEMPHIS, Tenn., Jan. 13 /PRNewswire/ -- 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.”
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.
“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 Immunology service at St. Jude and first author of the paper. “Our study is reassuring and helps to put into perspective the ability of such patients to thrive with proper care, despite this potentially devastating disease.”
Other authors of the study include Mehmet Kocak (St. Jude); Jeffrey M. Green (Children’s Hospital of Philadelphia); Savita Pahwa (University of Miami School of Medicine, Fla.); Jerry A. Winkelstein (The Johns Hopkins University School of Medicine; Baltimore, Md.); and John M. Boyle (SRBI; Silver Spring, Md.).
This work was supported in part by the National Institutes of Health, the National Cancer Institute, ALSAC and the Federal Express Chair of Excellence.
St. Jude Children’s Research Hospital
St. Jude Children’s Research Hospital is internationally recognized for its pioneering work in finding cures and saving children with cancer and other catastrophic diseases. Founded by late entertainer Danny Thomas and based in Memphis, Tenn., St. Jude freely shares its discoveries with scientific and medical communities around the world. No family ever pays for treatments not covered by insurance, and families without insurance are never asked to pay. St. Jude is financially supported by ALSAC, its fund-raising organization. For more information, please visit www.stjude.org.
St. Jude Children’s Research Hospital
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