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

[Church, Joseph]

We have encountered several of these patient - low TREC, low T-cells, normal mitogens.  So far we have identified 2 patients with ataxia telangiectasia (published) and one with Nijmegen breakage syndrome (unpublished) with whole exome sequencing.

________________________________
From: Richard Wasserman [drrichwasserman at gmail.com]
Sent: Saturday, November 23, 2013 1:01 PM
To: CIS-PIDD
Subject: [cis-pidd] Unusual SCID Screen Work up

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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