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

[CIS-PIDD]

Hi

We have had a case of male "CVID" who presented with aplastic anemia involving all cell lines, was noted to have panhypogam, low B cells and smBs, responded well to urgent rather high dose IgG substitution when all other options had been exhausted, doing well.
Cannot check now, but I think his T cell side showed something as well.

Some of our CVIDs w/o SBDS mutations show pancreatic insufficiency as well.

WES showed no suspects in known PID genes (incl STAT1, CTLA4, STAT3 a.o.). He has always intrigued me.

Basically, I would look for any monogenic combined autoimmunity PIDD...?? Really sounds like PIDD to me, for what it is worth...

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<mailto:cis-pidd at lists.clinimmsoc.org>> kirjoitti 10.6.2016 kello 4.20:

Hi Jennifer,

We have a patient (you may have met him when you were here) who has a CVID like phenotype with low IgG, IgA, vaccine Titers, with low B and T cell numbers. He's had multiple autoimmune complications including enteritis, DM I, anemia, neutropenia, thrombocytopenia. He also has pancreatic insufficiency. He has dry scaly skin, but I have never seen it look as inflamed as traditional eczema.

After extensive work-up we found a mutation in STAT1 via WES. We haven't been able to confirm its functional significance however because he never returns for follow-up.

Joseph Hernandez
Stanford University
Jdhernan at stanford.edu<mailto:Jdhernan at stanford.edu>

Sent from my iPhone

On Jun 9, 2016, at 12:37 PM, 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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