[CIS PIDD] [cis-pidd] Unusual SCID Screen Work up

[Richard Wasserman]

Chromosomal microarry showed no abnormalities.
Richard Wasserman


On Sun, Nov 24, 2013 at 11:16 PM, Seppänen Mikko <Mikko.Seppanen at hus.fi>wrote:


>

> 10qterminal more likely?

>

> Mikko Seppänen, HUCH, Finlsnd

>

> ________________________________________

> Lähettäjä: Romberg, Neil [neil.romberg at yale.edu]

> Lähetetty: 23. marraskuuta 2013 23:22

> Vastaanottaja: CIS-PIDD

> Aihe: Re: [cis-pidd] Unusual SCID Screen Work up

>

> I find the now normal PHA reassuring.

>

> A chromosomal microarray for 22q11.2 or 10p deletion would provide

> relevant information. We've picked up several in Connecticut without heart

> or calcium issues.

>

> Sincerely,

>

> Neil Romberg

>

>

> Sent from my iPhone

>

> On Nov 23, 2013, at 4:02 PM, "Richard Wasserman" <

> drrichwasserman at gmail.com<mailto:drrichwasserman at gmail.com>> wrote:

>

> I have been evaluating this now four month old Hispanic female with

> repeatedly positive low/very low TRECs on Texas SCID screen. She was the

> term product of a non-consangunious pregnancy. She has done well with one

> mild URI. She is currently on prophylaxis with TMP/SMX. Her lab studies, in

> date order are below:

>

> DOB: 130705

>

> 130726

> ALC 1814

>

> 130730

> ALC 1800

> PHA 47 (nl >66)

>

> 130809

> ALC 1800

> CD3 abs 718, CD4 abs 538, CD8 abs 178, CD19 abs 544 CD56/16  abs 482

> PHA 24 (nl >66)

> IgM 10 mg/dL

>

> 130813

> Adenosine Deaminase normal

>

> 130821

> ALC 2200

> PHA 111 (nl >66)

> IgM 10mg/dL

>

> 130904

> CD3 abs 957, CD4 abs 682, CD8 abs 267, CD19 abs 1059 CD56/16  abs 795

>

> 130924

> CD3 abs 506, CD4 abs 373, CD8 abs 128, CD19 abs 698 CD56/16  abs 533

> IgM 63mg/dL

>

> 131001

> CD3 Abs 673, CD3CD4 abs 522, CD3CD8 abs 140

> CD3+ 27%, CD4+ (of CD3) 68%, CD8+ (of CD3) 27%

> CD4 Naïve 62%, CD4 Memory 38%

> CD8 Naïve 90%, CD8 Memory 10%

>

> CD4 Naïve CD31+ 78%, CD4 Naïve CD31- 21%, CD4 memory Tcm 18%, CD4 Memory

> Tem 22%, TEMRA 0.1%

>

> CD8 Memory Tcm NR%, CD8 Memory Tem NR%, TEMRA 0.1%

>

> 131029

> TREC 3925 (nl >4168)

> ALC 1524

> CD3 Abs 673, CD3CD4 abs 522, CD3CD8 abs 140

> CD3+ 41%, CD4+ (of CD3) 76%, CD8+ (of CD3) 21%

> CD4 Naïve 56%, CD4 Memory 44%

> CD8 Naïve 85%, CD8 Memory 14%

>

> CD4 Naïve CD31+ 72%, CD4 Naïve CD31- 28%, CD4 memory Tcm 22%, CD4 Memory

> Tem 24%, TEMRA 0%

>

> CD8 Memory Tcm 3.3%, CD8 Memory Tem 24.9%, TEMRA 0.2%

>

> Any suggestions regarding further evaluation would be appreciated.

> Thanks,

> Richard Wasserman

>

> --

> Richard L. Wasserman, MD, PhD

> DallasAllergyImmunology

> 7777 Forest Lane, Suite B-332

> Dallas, Texas 75230

> Office (972) 566-7788

> Fax (972) 566-8837

> Cell (214) 697-7211

>

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-- 
Richard L. Wasserman, MD, PhD
DallasAllergyImmunology
7777 Forest Lane, Suite B-332
Dallas, Texas 75230
Office (972) 566-7788
Fax (972) 566-8837
Cell (214) 697-7211

---
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