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

[CIS-PIDD]

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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