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

[dmvascon at usp.br]

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 

----- Mensagem original -----

> 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
> Lab website:
> http://research.peds.wustl.edu/Default.aspx?alias=research.peds.wustl.edu/Labs/Cooper_M
> (lab office) 314-286-0262 314-286-0262
> (lab fax) 314-286-2895

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