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

[Rafael Firszt]

I believe the CD45RA count rules against the diagnosis of SCID.  I feel
the low TREC count is due to low T cell counts.  This is likely loss in
the gut.  I would not transplant this child at this time and follow CD45RA
counts.  Should rise over time.

Thanks

Rafael Firszt



On 7/12/13 11:00 PM, "Verbsky, James" <jverbsky at mcw.edu> wrote:


>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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