Navigation Links
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 ology 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 Med icine, Fla.); Jerry A. Winkelstein (The Johns Hopkins University School of Medicine; Baltimore, Md.); and John M. Boyle (SRBI; Silver Spring, Md.).


Source:St. Jude Children's Research Hospital

Related biology news :

1. Adding Radiation Therapy To Chemotherapy Improves Survival In Patients With High-risk Breast Cancer
2. HIV Patients May Be at Risk of Heart Problems When Taking Protease Inhibitor Drugs
3. Emory Eye Center Implants Its First Retinal Chips In Patients With Retinitis Pigmentosa
4. Implanted Devices Detect High-Risk Heart Failure Patients
5. Rush Physicians Using Gene Therapy For Heart Patients With Moderate To Severe Chest Pains Who Do Not Benefit From Other Treatments
6. Gene Signatures Predict Interferon Response For Multiple Sclerosis Patients
7. Bevacizumab Combined With Chemotherapy Improves Progression-Free Survival for Patients With Advanced Breast Cancer
8. Single-donor Islet Transplantation Procedure Shows Promise For Patients With Type 1 Diabetes
9. IMF Launches World’s First DNA Database for Myeloma Patients
10. Patients and their doctors have different perceptions about HIV and its treatment
11. Patients to benefit from novel technology revolutionizing high-speed molecular imaging
Post Your Comments:

(Date:6/27/2016)... , June 27, 2016 Research and Markets ... America 2016-2020" report to their offering. ... North America to grow at a CAGR of 12.28% ... prepared based on an in-depth market analysis with inputs from industry ... over the coming years. The report also includes a discussion of ...
(Date:6/22/2016)... June 22, 2016  The American College of Medical Genetics ... Executive Magazine as one of the fastest-growing trade shows ... at the Bellagio in Las Vegas . ... percentage of growth in each of the following categories: net ... and number of attendees. The 2015 ACMG Annual Meeting was ...
(Date:6/22/2016)... LOS ANGELES , June 22, 2016 ... of identity management and verification solutions, has ... cutting edge software solutions for Visitor Management, ... ® provides products that add functional ... The partnership provides corporations and venues with ...
Breaking Biology News(10 mins):
(Date:6/23/2016)... 23, 2016 Andrew ... Published recently in ... journal from touchONCOLOGY, Andrew D Zelenetz , ... cancer care is placing an increasing burden on ... biologic therapies. With the patents on many biologics ...
(Date:6/23/2016)... ... 23, 2016 , ... ClinCapture, the only free validated electronic ... showcase its product’s latest features from June 26 to June 30, 2016 for ... Disrupting Clinical Trials in The Cloud during the conference. DIA (Drug Information ...
(Date:6/23/2016)... ... 2016 , ... Velocity Products, a division of Morris Group, ... exclusively for Okuma CNC machining centers at The International Manufacturing Technology Show, IMTS, ... companies with expertise in toolholding, cutting tools, machining dynamics and distribution, Velocity SMART ...
(Date:6/23/2016)... 2016 adds 2016 ... its pharmaceuticals section with historic and forecast data ... more. Complete report on the Cell ... 15 companies and supported with 261 tables and ... . The Global Cell Culture Media ...
Breaking Biology Technology: