Dear ESID colleague,
We do CPA-certified STAT3 mutation detection
at the Royal Free Hospital in London.
If we detect a previously reported genetic change we issue a mutation report.
If we identify a previously unreported change we ask for blood of the parents to see whether it is a de novo mutation,
and of the patient to perform the IL10-mediated inhibition of TNFa release assay for testing the integrity of the STAT3 signal transmission.
Doing so, we have observed normal results in patients with a clear cut HIES (Jobs) phenotype.
Polyphen says probably damaging… So maybe this functional assay leaky?
Who is also doing STAT3 mutation detection in HIES?
What do you do to verify that an observed genetic change in STAT3 is disease causing?
I am also very interested to learn who does Dock8 or Tyk2 testing in ESID-world.
Please drop me a ping
b.grimbacher@ucl.ac.uk
Thanks!
Yours, Bodo
