Investigators at the National Institutes of Health (NIH) 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.
Primary Immune Deficiency Diseases (PIDDs) News Releases
NIAID Scientists Identify Cause, Possible Treatment for Life-Threatening Gut Condition
June 28, 2017
NIAID Scientists Discover Rare Genetic Susceptibility to Common Cold
June 12, 2017
Scientists have identified a rare genetic mutation that results in a markedly increased susceptibility to infection by human rhinoviruses (HRVs)—the main causes of the common cold. Colds contribute to more than 18 billion upper respiratory infections worldwide each year, according to the Global Burden of Disease Study.
NIAID Research Aids Discovery of Genetic Immune Disorder
December 23, 2016
Investigators at the National Institutes of Health (NIH) and international colleagues have identified a genetic immune disorder characterized by increased susceptibility and poor immune control of Epstein-Barr virus (EBV) and, in some cases, an EBV-associated cancer called Hodgkin’s lymphoma. The researchers studied two unrelated sets of siblings with similar immune problems and determined their symptoms were likely caused by a lack of CD70, a protein found on the surface of several types of immune cells.
Gene Therapy Restores Immunity in Children and Young Adults with Rare Immunodeficiency
December 5, 2015
Gene therapy can safely rebuild the immune systems of older children and young adults with X-linked severe combined immunodeficiency, a rare inherited disorder, scientists from the National Institute of Allergy and Infectious Diseases have found.
NIH-Funded Researchers Identify New Genetic Immune Disorder
June 17, 2015
Researchers funded by the National Institutes of Health (NIH) have identified a new immune disorder-DOCK2 deficiency-named after the mutated gene responsible for the disease.
Gene Therapy Shows Promise for Severe Combined Immunodeficiency
October 8, 2014
Researchers have found that gene therapy using a modified delivery system, or vector, can restore the immune systems of children with X-linked severe combined immunodeficiency (SCID-X1).