[CIS PIDD] [cis-pidd] SCID NBS

[CIS-PIDD]

Lisa:

We have had a number of these babies:  2 Ataxia Telangiectasia and 1 Nijmegen Breakage syndrome (reported); 3 DiGeorge (with no dysmorphisms, no cardiac findings and no calcium issues), and 3 unknown at this time.

Joe Church
Children's Hospital Los Angeles



From: CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org]
Sent: Thursday, September 29, 2016 11:19 AM
To: CIS-PIDD
Subject: [cis-pidd] SCID NBS


We  identified a female infant through newborn screening for SCID - She has had persistent moderately severe TCL (350-450 range with one value of 700), memory T cells around 15-20%.  Increased B cell # and normal NK cell #.  She was a little SGA, but not dysmorphic and is gaining weight appropriately (formula fed).  She was started on Bactrim and SC IG.  However, her mitogen stimulation response was normal (PHA, PWM, ConA).

No bony dysplasia, IgG 350 (at 2 months) and no IgA or IgM.

Exome SCID panel was normal, microarray was normal.

We are sending chimerism analysis and IL7R measurement.

For now we are continuing supportive care and prophylaxis, but next steps?



Is this likely idiopathic TCL?  Another type of T cell defect?

What additional testing might be useful to identify a cause?



Thank you for your input.

Lisa




Lisa Kobrynski, MD, MPH
Associate Professor of Pediatrics
Marcus Professor of Immunology
Section, Allergy/Immunology

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