Patients now surviving once-fatal immu...( nology service at St. Jude and first au...),Health

nology service at St. Jude and first author of the paper. "In the past, the majority of patients with XLA died of acute or chronic infections in the first two decades of life," Howard noted. "But in the last 20 years the outlook for patients with XLA has significantly improved, thanks to earlier diagnosis and improved gamma globulin therapy. 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."

Forty of the 41 patients were receiving intravenous infusions of gamma globulin every two to four weeks and 16 (39 percent) were taking chronic (long-term) antibiotics in order to prevent infections, the St. Jude team reported.

In addition, 17 patients (41 percent) had not been hospitalized for infection since diagnosis and 28 (68 percent) had not been hospitalized in the past five years. Moreover, 34 (83 percent) of these patients rated their health as good, very good or excellent; 35 (86 percent) of patients missed fewer than 10 days of work or school due to illness in the past year; and 18 (44 percent) reported they had not missed any work or school.

Thirteen of the 41 patients reported that they had chronic lung disease, and 33 indicated that they had one or more episodes of sinusitis in the preceding year. Other diseases that were common but not debilitating among this group were arthritis, diarrhea and skin infections.

Several factors may have contributed to the increased survival of this group of patients. When compared to all patients with XLA, a high percentage of the patients included in this study had mild mutations in Btk. In addition, most had older brothers or cousins with XLA. Thus, they were probably diagnosed earlier and treated more aggressively.

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 Me
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Contact: Carrie Strehlau
Carrie.Strehlau@stjude.org
901-495-2295
St. Jude Children's Research Hospital
13-Jan-2006

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