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

[Romberg, Neil]

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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