[CIS PIDD] [cis-pidd] 2yo with hemolytic anemia and T/B abnormalities

[Abraham, Roshini S., Ph.D.]

Megan,



Yes, we can do spectratyping ....see my other email to you.



Roshini



Roshini Abraham

Mayo Clinic



________________________________
From: bounce-42341178-183824373 at lists.clinimmsoc.org [mailto:bounce-42341178-183824373 at lists.clinimmsoc.org] On Behalf Of Cooper, Megan
Sent: Tuesday, December 11, 2012 11:40 AM
To: CIS-PIDD
Subject: RE:[cis-pidd] 2yo with hemolytic anemia and T/B abnormalities

Thanks Jen -
Thanks.  Is anyone doing spectratyping as a clinical test (I think mayo was getting it started)?

His proliferation was:
June:
Viability 70%
PWM % CD45 - 1.9% (>4.5%)
PWM %CD3 - 4.1% (>3.5%)
PWM %CD19 - 1.3 (>3.9%
PHA %CD45 - 14.9 (>49.9%)
PHA %CD3 - 36.4 (>58.5%)
Candida and tetanus - 0%

September:
Viability 62%
PWM % CD45 - 1.1% (>4.5%)
PWM %CD3 - 2.7% (>3.5%)
PWM %CD19 - 0.7 (>3.9%
PHA %CD45 - 9.4 (>49.9%)
PHA %CD3 - 19.6 (>58.5%)

Thanks - Megan

From: Heimall, Jennifer [mailto:heimallj at email.chop.edu]
Sent: Tuesday, December 11, 2012 11:29 AM
To: CIS-PIDD
Subject: RE:[cis-pidd] 2yo with hemolytic anemia and T/B abnormalities


Hi Megan,

I think your thoughts about a possible hypomorphic SCID are reasonable, esp given the low mitogen responses.

How low percentage wise compared to control are they?

i would also consider looking for maternal engraftment and assess T cell repertoire by spectratyping.

Jen


Jennifer Heimall, MD
The Children's Hospital of Philadelphia
Allergy/Immunology
3550 Market Street
3rd Floor
Philadelphia, PA 19104
phone: (267)426-9231
________________________________
From: Cooper, Megan [Cooper_M at kids.wustl.edu]
Sent: Tuesday, December 11, 2012 12:18 PM
To: CIS-PIDD
Subject: [cis-pidd] 2yo with hemolytic anemia and T/B abnormalities
Hi Everyone,

I saw an interesting patient as a consult from our Heme/Onc doctors and was wondering if anyone had thoughts about a potential diagnosis.  This is a 3yo who had refractory hemolytic anemia at age 2 yo (unknown cause after extensive testing, possibly autoimmune) with subsequent pancytopenia thought to be d/t splenic congestion.  His cytopenias and anemia resolved with splenectomy.  He has had recurrent upper respiratory infections and an immune work-up is significant for low CD4 count with an activated/memory phenotype and very poor proliferation (0 to candida and tetanus; low with mitogens); elevated B cells but very low % class switched; normal total immunoglobulins with non-protective tetanus titer (did respond to vaccine) and strep pneumo titers (did not respond to prevnar).

He has not had any serious infections, is well grown and developing normally.

Testing so far has included a negative ALPS screen, positive expression of CD40/CD40L, normal PNP.  Pending is AID and UNG sequencing, and I'll probably send Rag/artemis for hypomorphic mutations as well (although he doesn't really fit except for activated/possibly oligoclonal T cells).  Some specific labs are below.

Any thoughts are appreciated.  I'm also wondering if some of his immunologic abnormalities might be due to splenectomy - I'm doubtful of this but don't have a lot of experience testing kids after splenectomy.

Thanks,

Megan

Megan A. Cooper, MD, PhD
Assistant Professor, Department of Pediatrics
Division of Rheumatology
Washington University School of Medicine
Cooper_m at kids.wustl.edu<mailto:Cooper_m at kids.wustl.edu>
Lab website: http://research.peds.wustl.edu/Default.aspx?alias=research.peds.wustl.edu/Labs/Cooper_M
(lab office) 314-286-0262
(Rheum office) 314-454-6124
(lab fax) 314-286-2895
(Rheum fax) 314-454-4861

Specific labs:
IgG 409; M 86; A 19; E 7.9

CD4 - 558 cells/ul (HIV negative)
CD8 - 1766
CD19 - 5020
CD56/16 - 1394
Class I - present on all
HLA-DR - present on all B cells
CD40  + on all B cells
CD40L - 2% CD4s resting; 44% CD4s activated (ref 79-96%)

CVID flow panel:
T cells - CD4RA 27%; CD4 RO 64%; HLA DR CD4 2%; HLADR CD8 11%
B cells - CD21+CD27- 64%; CD21-CD27+ 0%; CD21+CD27+1%; IgD+CD27- 92%

DNT screen - 0.3% DNTs
Other T cell phenotyping with DNT screen: CD3+CD25+ count 157 (low, ref 273-599); CD3+HLADR+ 1804 (high - ref 51-246)

Proliferation - very poor to PWM, PHA, candida, & tetanus (before re-vaccination).  His Candida and Tetanus proliferation was actually 0% (flow assay) with decent cell viability and some proliferation to mitogens



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