Event
ESID, Edinburgh, 11-14 September

11 September 2017

Find us in Edinburgh at the poster presentation here

 

POSTER PRESENTATION

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

See here poster by Simeoni et al.

Ilenia Simeoni (right) and Hana Lango Allen (left) advertising GRID at ESID 2017 in Edinburgh

 

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
ESID President