GRID primary paper:
Simeoni I. et al., 2018
GRID – Genomics of Rare Immune Disorders: a highly sensitive and specific diagnostic gene panel for patients with primary immunodeficiencies
Quotation kindly provided by Professor Cant at ESID Sept 2017 Meeting:
“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