Online Registry of Genetic and Clinical Immunodeficiency Diagnostic Laboratories, IDdiagnostics

@article{Samarghitean2004OnlineRO,
  title={Online Registry of Genetic and Clinical Immunodeficiency Diagnostic Laboratories, IDdiagnostics},
  author={Crina Samarghitean and Jouni V{\"a}liaho and Mauno Vihinen},
  journal={Journal of Clinical Immunology},
  year={2004},
  volume={24},
  pages={53-61}
}
Primary immunodeficiencies (IDs) are caused by inherited genetic defects leading to intrinsic defects in cells of the immune systems. Most IDs are rare diseases and can be difficult to diagnose because similar symptoms characterize several disorders. Mutation detection is the most reliable method in such cases. These tests are not available at most centers and physicians can have difficulties in finding laboratories that could analyze the genetic defects because certain genes are possibly… CONTINUE READING

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