[CIS PIDD] [cis-pidd] Positive NB Screen

[Harville, Terry O]

Richard,

We see values like this in the Partial DiGeorge setting.

Were CD45RO and CD45RA evaluated?

Terry Harville MD PhD
-Medical Director, Special Immunology Laboratory
-Medical Director, Histocompatibility Laboratory
-Medical Director, Immunogenetics and Transplantation Laboratory
-Specialist in Pediatric Immunology and Rheumatology
Departments of Pathology and Laboratory Services and Pediatrics
University of Arkansas for Medical Sciences
4301 West Markham
Mail Slot #502
Little Rock, AR  72205-7199

Work Phone 1.....................................................................501.686.7257
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Email..............................................................harvilleterryo at uams.edu

Special Immunology Laboratory......................................501.364.1804
Histocompatibility Laboratory..........................................501.686.7257
Immunogenetics and Transplantation Laboratory.........501.686.7374

From: Richard Wasserman [mailto:drrichwasserman at gmail.com]
Sent: Friday, September 06, 2013 2:20 PM
To: CIS-PIDD
Subject: [cis-pidd] Positive NB Screen

I have been evaluating a normal term female with an abnormal SCID screen of "very low TRECs". The available data are below:

Day of life 38

Day of life 62

Abs.CD19+ Lymphs L 544 (/uL) 600-1900 01
Absolute CD 3 L 718 (/uL) 2300-7000 01
Absolute CD 4 Helper L 538 (/uL) 1700-5300 01
Abs. CD 8 Suppressor L 178 (/uL) 400-1700 01
Ab NK (CD56/16) 482 (/uL) 200-1400 01
WBC L 3.9 (x10E3/uL) 5.0-12.4 01

Abs.CD19+ Lymphs 1059 (/uL) 600-1900 01
Absolute CD 3 L 957 (/uL) 2300-7000 01
Absolute CD 4 Helper L 682 (/uL) 1700-5300 01
Abs. CD 8 Suppressor L 267 (/uL) 400-1700 01
Ab NK (CD56/16) 795 (/uL) 200-1400 01
WBC 5.1 (x10E3/uL) 5.0-12.4

Day of life 25 PHA = 47%, IgM = 10ml/dL

PHA day of life 47 = 111%

Adenosine deaminase 15.02




She has been well. As you can see, her PHA normalized and her counts are improving. I'd appreciate suggestions for further evaluation.

Richard Wasserman
Dallas
--
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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