ESID, Edinburgh, 11-14 September
11 September 2017
Find us in Edinburgh at the poster presentation here
GRID – A NEW CLINICAL DIAGNOSTIC TEST TO DIAGNOSE PATIENTS WITH PRIMARY IMMUNE DISORDERS (PID)
Ilenia Simeoni, Moira Thomas, Olga Shamardina, Ken Smith, Willem H Ouwehand, NIHR BioResource Rare Diseases, *James Thaventhiran and *Hana Lango Allen
Message from Professor A. J. Cant:
“One tries very hard to make a complete diagnosis in PID using clinical features and immunophenotype; for example in an infant with infections, thrush and failure to thrive together with a T negative, B negative, NK positive phenotype one would make a diagnosis of Severe Combined Immunodeficiency (SCID) and if there were no dysmorphic features one would anticipate a defect in RAG or Artemis. However, on genotyping one such patient, a defect in DNA ligase IV was found. Not recognising such a defect is potentially critical for determining the best way to deliver curative treatment to SCID patients. What genome testing is teaching us is that there are molecular diagnoses which do not display the expected phenotype”.
Professor Andrew J Cant