[CIS PIDD] [cis-pidd] PRA and ? PID

Fri Jun 10 02:57:39 EDT 2016

Many thanks everyone!

In your cases, has treating the PID (with modalities other than transplant)
resulted in improvement of marrow function?

On Fri, Jun 10, 2016 at 12:18 AM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org>
wrote:

> Yes, and of course he does this test also for patients followed in
> Canada...
>
> > On Jun 9, 2016, at 23:14, CIS-PIDD <cis-pidd at lists.clinimmsoc.org>
> wrote:
> >
> > Mike Hershfield from Duke's offers ADA2 activity testing in US,
> >
> > Mikko
> >
> > Oyl Mikko Seppänen
> > Harvinaissairauksien yksikkö (HAKE)
> >
> > Head, Rare Disease Center,
> > Helsinki University Hospital (HUH)
> > FINLAND
> >
> > phone +358 947180201
> > GSM +358 50 4279606
> > fax +358 9 47174703
> >
> >> CIS-PIDD <cis-pidd at lists.clinimmsoc.org> kirjoitti 10.6.2016 kello
> 9.10:
> >>
> >> Hi Jennifer,
> >> Did you consider ADA2 deficiency?
> >> During the last PIDTC education day, Hasan Hashem, a fellow from
> Cleveland, described the case of a patient who presented with PRCA, a mild
> immunodeficiency, and who was eventually diagnosed with ADA2 deficiency.
> >> ADA2 deficient patients often have a stroke but not in all cases.
> >> You could rule out this hypothesis by dosing ADA2 enzyme activity, if
> you don't have an easy access to WES.
> >> All the best
> >> Elie
> >>
> >> Elie Haddad
> >> CHU Ste-Justine, University of Montreal.
> >>
> >>
> >> On Jun 9, 2016, at 12:37, CIS-PIDD <cis-pidd at lists.clinimmsoc.org
> <mailto:cis-pidd at lists.clinimmsoc.org>> wrote:
> >>
> >> Dear colleagues,
> >>
> >> I would appreciate your opinions on a case that was referred to me by a
> colleague:
> >>
> >> She is a 26yo Canadian, caucasian female with the following medical
> profile:
> >> 1) Pure red cell aplasia diagnosed December 2012 (interestingly on the
> marrow, myeloid elements were also slightly decreased but she has never
> been neutropenic).  Prior to December 2015 she was treated with prednisone
> and cyclosporine at different times.  She responded to each agent but lost
> her response when the medication was tapered.  She received horse ATG and
> cyclosporine Dec 2015 and went into remission, but this appears to be
> tenuous as her Hb dropped when she missed a few doses of CsA during
> illness. At present, the plan is to continue the minimal effective dose of
> CsA and there are ongoing discussions about stem cell transplant.  Parvo
> serology was negative.
> >>
> >> 2)  GI issues:
> >> a) Pancreatic exocrine insufficiency requiring pancreatic enzyme
> replacement.  She was tested for Schwachman Diamond, but this was negative
> and she doesn't really have other features of this syndrome.
> >> b) Possible IBD with 15cm of rectosigmoid thickening on ultrasound.
> The patient has declined colonscopy.
> >>
> >> 3) Skin conditions:
> >> a) Eczema starting in childhood which she describes as being very
> severe and complicated by bacterial and fungal superinfections.  She
> reports multiple food, chemical and environmental allergies.  She has had
> recurrent rashes involving her torso, hands, face, and arms (never
> biopsied).  When I saw her, she did not have a diffuse rash, but definitely
> had evidence of eczema on her hands.  She was seen by a dermatologist who
> feels she has contact dermatitis and lichenified eczema.
> >> b)  Warts that were first noted in childhood and resolved, but have
> recurred and are quite severe on her hands.
> >> She does not have a significant history of infections aside from the
> warts and eczema-related infections.
> >>
> >> I tested her B and T cell subsets in June 2015. This showed:
> >> - normal total CD3+ cells as well as CD4 and CD8 subsets
> >> - Her responses to PHA, ConA and PWM were good
> >> - low  CD19+ cells = 0.02 x 10E9/L (ref range 0.1-0.5).  She had low
> IgD+27- cells and no IgD-27+ or IgD+27+ cells.
> >> - IgG = 9.92 g/L, IgA 0.82 g/L (both within normal range) and low IgM
> at 0.29g/L. IgE 14kIU/L
> >> - isohemagglutinins (Blood type O) anti A = 8 and anti B = 8 (lower
> limit of normal for both is 8).
> >> - NK cells were normal in number.
> >>
> >> By the time I saw her she was on a short course of IVIg to try to treat
> her PRCA and so I did not do vaccine testing at the time.
> >>
> >> There is no evidence of thymoma on CXR.
> >>
> >> My questions are:
> >> 1) Is there a known immune deficiency that could present with this
> phenotype?
> >> 2)  Any suggestions for further investigations or treatment?
> >>
> >>
> >> Jennifer Grossman
> >> Hematologist/ Immunologist
> >> Alberta Health Services
> >> Calgary, Alberta, Canada
> >>
> >>
> >>
> >>
> >>
> >> ---
> >>
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