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Investigators at the National Institutes of Health and international colleagues have discovered a genetic cause and potential treatment strategy for a rare immune disorder called CHAPLE disease. Children with the condition can experience severe gastrointestinal distress and deep vein blood clots. No effective treatments are available to ameliorate or prevent these life-threatening symptoms.

In the study, researchers from the National Institute of Allergy and Infectious Diseases (NIAID), part of NIH, describe a newly understood mechanism for CHAPLE disease, or CD55 deficiency with hyperactivation of complement, angiopathic thrombosis, and protein-losing enteropathy. The research report was published online today in the New England Journal of Medicine. CHAPLE disease is a form of primary intestinal lymphangiectasia (PIL), or Waldmann’s disease, first described in 1961 by Thomas A. Waldmann, M.D., an NIH Distinguished Investigator at the National Cancer Institute, at NIH.

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