[CIS PIDD] [cis-pidd] Newborn with Multiple Intestinal Atresia and Immune Deficiency

[Verbsky, James]

We detect NEC not infrequently on NBS for SCID. It's invariably secondary effects that resolve. You said the NBS was normal. Is that for SCID?  If so this isn't SCID. I would reassess when the bowel issues improve. This sounds like loss in the gut...

Sent from my iPad

On Jul 13, 2013, at 12:59 AM, "Yeşim Yılmaz Demirdağ" <dryesimyilmaz at gmail.com<mailto:dryesimyilmaz at gmail.com>> wrote:

Dear all,

I have a very challenging case I would like to discuss:

12 day baby girl, ex-premie at 35 wks EGA.
Mother is an American/ Irish father is Ashkenazi Jewish/Irish. There is no consanguinity. Patient is a product of second pregnancy through IVF, the first pregnancy (again IVF) ended early due to unknown reasons.

Last week, patient underwent an extensive intestinal surgery including gastoduodenostomy, small bowel resection x 7, cecectomy, appedectomy, enteroenterostomy x 8, duodenostomy, sigmoid colostomy, mucus fistula x2, and placement of gastrostomy tube.

Her findings on day 3 of life;
ALC: 1200 cells/microliter
AMC: 3200 cells/microliter
ANC: 6500 cells/microliter

CXR: no thymus shadow

day 4: IgA and IgM are undetectable, IgG: 561 mg/dl
Lymphocyte subsets: CD3 absolute: 350 cells/microliter (67%)
                               CD4 abs: 314 cells/microliter (60%)
                               CD8: 3 cells/microliter (3%)
                               CD19: 89 cells/microliter
                               CD16+CD56: 69 cells/microliter

Day 7 ALC is 1600 cells/microliter
Day 10 ALC: 700 cells/microliter
Day 12 (today) after spiking a temp of 100.2 her WBC went up to 22,000 and ALC is now 2100.

Other labs:
% CD45RA                   56 % 15-70
Absolute CD45RA        192 L /uL 200-3400
% CD45RO                   15 % 5-30
Absolute CD45RO         52 /uL 50-1500
% CD2                         87 % 55-88
Absolute CD2             381 L /uL 3800-5300
% HLA-DR                    9 L % 11-45
Absolute HLA-DR         38 L /uL 430-3300

TREC: 539 copies per million CD3 cells (normal for age > 4168).

Newborn screening test is negative x 2.

Lymph proliferation: pending

TTC7A mutation assay: pending

My questions are:

Would you transplant this baby? Our BMT team told me that it is very unlikely that they can find an unrelated mathched donor, and they would like to use mother's BM.
What type of donor would you recommend if there is no UMD? Cord blood vs mother's BM?
What type of conditioning would you do?
What would you recommend for the donor T cell depletion?

Thank you and have a great weekend!

Yeshim



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