Thanks again to Rohan, whose work in this field has been tireless:
" I was asked by David Gillis to present our experience at the recent Path update in Melbourne. I did talk briefly about our customised PID testing program.
Thanks to Richard Loh for his advocacy in finding a "best way" forward for Australasian PID gene testing: "I wanted to know if Australia/NZ should have their own database for genetic tests for PID (? using current RCPA)
It appears that we are blessed with a multitude of options for genetic testing in PID, and enthusiastic colleagues are full of helpful information about available services (summarised on this page).
Thanks to Stuart Tangye for informing me of assay availability through his laboratory, as well as performance of genotyping through Matthew Cook's laboratory
As Julian mentioned, we are doing dsg-1 and 3 antibodies quantitatively by ELISA. We are about to publish a series of 55 cases assessed at enrolment, then followed sequentially
I'm told that formal working group processes for ENA and CD are not currently active (Thanks to Daman Langguth and Richard Steele). Still unsure about other areas of work, including phospholipid/cardiolipin antibodies, pernicious anaemia testing, autoimmune hepatitis.
By the end of this week, I'd be grateful if any colleagues involved in standardisation/consensus committees or working groups on autoimmune serology could please feed back to me the scope of their activities.
I wonder if there is any lab doing Fip1-like1 (FIP1L1)-platelet-derived growth factor receptor alpha (PDGFRA) (F/P) fusion gene for hypereosinophilic syndrome?