[CIS PIDD] [cis-pidd] SCID genetic testing?

Tue Sep 30 21:51:54 EDT 2014

Hi Dewton - yes, thank you.  We are trying to get the enzyme testing sent, great thought.  Her monocytes are actually high (although she is young) and undetectable IgE (IgM normal) with no eosinophilia.  Measuring uric acid is a good idea and should be covered.

Best,

Megan

________________________________
From: dmvascon at usp.br [dmvascon at usp.br]
Sent: Tuesday, September 30, 2014 8:28 PM
To: CIS-PIDD
Subject: Re: [cis-pidd] SCID genetic testing?

Dear Megan, good evening

If the lymphocytes are dropping purine pathway defects are a good possibility.
Uric acid levels could be useful in this context, as in purine nucleoside phosphorylase (PNP) deficiency urate levels are really low, and in adenosine deaminase deficiency moderately low (approximately 2 mg/dL).
Enzymatic activity can be evaluated in red blood cells and could help you to drive the diagnosis.
Other diseases that evolve with progressive decrease of lymphocytes are GATA2 (low monocyte counts could be useful) and DOCK8 (Eczema, high IgE and eosinophilia could help).

Hope it helps.

With my kind regards,

Dewton

Dewton de Moraes Vasconcelos, MD, PhD
University of São Paulo School of Medicine

________________________________
De: "Megan Cooper" <Cooper_M at kids.wustl.edu>
Para: "CIS-PIDD" <cis-pidd at lists.clinimmsoc.org>
Enviadas: Terça-feira, 30 de Setembro de 2014 21:52:54
Assunto: [cis-pidd] SCID genetic testing?

Hi Everyone,

I am seeing an infant referred for a positive NBS for SCID.  I have run into a situation where her insurance is completely unwilling to pay for any genetic testing.  I'm wondering if anyone is doing research-based testing or has other ideas about how to obtain further testing.  I'm guessing this has been a problem in other states with NBS. Luckily - she is doing relatively well, proliferation is normal, but she is only 2 months old and her T cells are dropping.  I think further testing (?hypomorphic mutation) would allow for better prediction of her prognosis/need for treatment.

Briefly her clinical picture:
-Near-term, no major complications, eating/growing, normal exam, now almost 2 months old
-low T cells (below) with other normal counts  - although B and NK #s are going down as well
-completely normal proliferation to mitogens
-CD4RTE test at mayo showed elevated CD45RO% (~30%), but normal percentage of CD31+ cells within the CD45RA compartment (84% of CD45RA+ were CD31+)
-Chr 22 and 10 FISH negative, no known midline/cardiac defects.
-HIV PCR negative & maternal HIV negative, Chr 22 and 10 FISH negative.

Counts:

8/26/14:
CD4 - 838
CD8 - 510
CD19 - 1239
CD56/16 - 875

9/29/14
CD4 - 656
CD8 - 316
CD19 - 729
CD56/16 - 632

Normal class I/II expression, nl CD40, T cells largely negative DR

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) 314-286-0262314-286-0262
(lab fax) 314-286-2895

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