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

Fri Jun 10 09:03:34 EDT 2016

I agree.
In our CTLA4 cohort there are at least 2 more with PRCA.
Also the other phenotype fits.
Quickest diagnosis is by sequencing the 4 exons.
I can offer to do this in this patient, if you wish.
Best, Bodo

****************************************
Univ.-Prof. Dr. med. B. Grimbacher

Scientific-Director
CCI-Center for Chronic Immunodeficiency
UNIVERSITÄTSKLINIKUM FREIBURG
Tel.: 0761 270-77731  Fax: -77744
Breisacherstraße 115, 79106 Freiburg
bodo.grimbacher at uniklinik-freiburg.de<mailto:bodo.grimbacher at uniklinik-freiburg.de>
www.uniklinik-freiburg.de/cci

and

Consultant Immunologist
Institute of Immunity & Transplantation
Dept of Immunology
Royal Free Hospital
UNIVERSITY COLLEGE LONDON
Pond Street
London NW3 2QG
b.grimbacher at ucl.ac.uk<mailto:b.grimbacher at ucl.ac.uk>
www.centreforimmunodeficiency.com

Von: CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>>
Antworten an: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Datum: Thursday 9 June 2016 21:48
An: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Betreff: RE: [cis-pidd] PRA and ? PID

We recently diagnosed a 20 year old with aplastic anemia and some IBD issues with CTLA4 haploinsufficiency.  We just submitted this case for publication.  Ours is the first described CTLA4 presenting with aplastic anemia.
Our patient also had low B cells but her quantitative immunoglobins were actually pretty decent.
I would look into this diagnosis

I hope that helps

Hey Jin Chong MD PhD
Assistant Professor of Pediatrics
Division of Pulmonary Medicine, Allergy & Immunology
Children's Hospital of Pittsburgh of UPMC
One Children's Hospital Drive
4401 Penn Avenue
Pittsburgh, PA 15224
tel 412-692-7885
fax 412-692-8499

From: CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org]
Sent: Thursday, June 09, 2016 3:37 PM
To: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Subject: [cis-pidd] PRA and ? PID

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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