IFNa assay, particularly on CSF (for Aicardi-Goutieres Syndrome) - From Matthew Cook

Thanks to Matthew Cook for his feedback on this question. 

It's a pretty tricky assay, and not always conclusive. We can genotype TREX1 if they'd like that done.

IFNa assay, particularly on CSF (for Aicardi-Goutieres Syndrome) - From Theo de Malmanche

Dear colleagues,

  Is anyone able to analyse CSF IFNa levels for our neonatologists?Thanks,

Theo

Fwd: 23 month old with ?IFNgR Deficiency

---------- Forwarded message ----------
From: glenn reeves <glenn.reeves@gmail.com>
Date: Wed, Nov 14, 2012 at 8:28 PM
Subject: 23 month old with ?IFNgR Deficiency
To: ImmDefClin <glenn.reeves.lgidc@blogger.com>, ImmDefLab <glenn.reeves.lgidls@blogger.com>


Ben, post cam path, t-cell reconstitution may not necessarily be normal, so I would be careful implying that a total lymph count implies a normal cd4 count.

In addition, in adult non HIV non drug induced immune suppression NTMI relapses are common. This seems true in the Thai anti-ifn antibody PTs as well as the idiopathic disease largely in elderly women who haven't been shown as yet to have ifn-g pathway defects.

Dr Daman Langguth
MBChB FRACP, FRCPA
P:07 3377 8698
M:0414642282
F:07 3871 1877

23 Month Old with ?IFNgR deficiency

 Dear All,
>
> We've been consulted about a 23/12 old patient at the kids hospital in
> Perth who has developed disseminated non TB mycobacterium after Campath
> therapy for refractory Langerhan's Cell Histiocytosis (Histopath have
> assured us that the diagnosis is correct although there have been
> reports of LCH mimicing IFNgR deficiency which is known to respond to
> IFNg therapy).
>
> They've asked us about IFN g therapy as an option in this patient who
> has developed relapsed NTM involving the skin despite clarithromycin,
> rifabutin and ciprofloxacin. We are looking for a biomarker to prove IFN
> g pathway deficiency before embarking on this. Steve Holland from NIH
> has suggested doing CD119 (IFNgR1) on peripheral blood as an initial
> screen. We've found the Addenbroke's Hospital in the UK will examine the
> IL-12/IFNg/IFNgR pathway for us but we're wanting to know if anyone in
> Australia is doing this or has experience?
>
> Regards,
>
> Dr. Ben McGettigan
> Immunology Advanced Trainee
> Dept of Clinical Immunology
> Princess Margaret Hospital
> GPO Box D184 Perth WA 6840
> Ph  (08) 9340 - 8310
> Fax  (08) 9380 6246