[CIS PIDD] [cis-pidd] Fucose anyone? LAD2 patient with draining wound

Thu May 28 11:20:18 EDT 2015

We transfused him here a few times .  So I guess not easy but doable.

Sent from my iPhone

On May 28, 2015, at 10:59 AM, Perez, Elena Elizabeth <e.perez13 at med.miami.edu<mailto:e.perez13 at med.miami.edu>> wrote:

Thanks for  input, good to know...I thought if we could get his neutrophils to work better in vivo, then this collection might improve. I will discuss further with blood bank regarding intricacies of WBC infusion with Bombay blood type patient...

What do you think about need for apheresis or ritux prior to WBC infusion, compatibility of donor, etc. given his Bombay blood type?

Appreciate your thoughts/experience from prior.

Thanks,

Elena

________________________________
From: Cunningham-Rundles, Charlotte <charlotte.cunningham-rundles at mssm.edu<mailto:charlotte.cunningham-rundles at mssm.edu>>
Sent: Thursday, May 28, 2015 10:46 AM
To: CIS-PIDD
Cc: fcf5 at med.miami.edu<mailto:fcf5 at med.miami.edu>
Subject: Re: [cis-pidd] Fucose anyone? LAD2 patient with draining wound

Hi Elena,

For this kid the fucose was  very interesting in the lab studies we did. It did not help for infections of his skin or mouth. I know that you would like to use it again, but I have to say, we stopped doing it as it was a lot of effort for nothing observable clinically.

I would use WBC infusions myself.

good luck!

Charlotte

On May 28, 2015, at 12:26 AM, Amos Etzioni <etzioni at rambam.health.gov.il<mailto:etzioni at rambam.health.gov.il>> wrote:

Dear Elena
Indeed fucose supplementation is very hard to get and only the company you mentioned produce it. From my experience with 5 patients ( who did not not response to fucose supplementations) infections episodes decrease with time. In one case I used granulocyte transfusion which seems to be beneficial.
My good friend Hans asks about transplantation in LAD 2. Well, I do not know of any case and as these kids get older their main problem is not so much the infections but the severe growth and mental retardation which transplantation will not help. BTW we still study through iPS to find the reason for these severe growth mental retardation.
Amos

-----Original Message-----
From: Perez, Elena Elizabeth [mailto:e.perez13 at med.miami.edu]
Sent: Wednesday, May 27, 2015 10:56 PM
To: CIS-PIDD
Cc: fcf5 at med.miami.edu<mailto:fcf5 at med.miami.edu>
Subject: [cis-pidd] Fucose anyone? LAD2 patient with draining wound

Dear immunology colleagues around the world,

I am caring for a 14yo patient with LAD2 (the patient described in Hidalgo, et al Blood 2003;101:1705-1712), who was transferred to our university hospital for a chronically draining wound from site of former G-tube.

Abdominal ultrasound shows, "3.9 x 0.6 x 3.1 cm irregular heterogeneous hyperemic collection in the left abdomen wall with apparent track to the skin similar to the prior exam. There is no demonstration of track between this collection and the peritoneal cavity." Upper GI with small bowel follow through shows, "  Abnormally positioned duodenum and small bowel, as expected in view of the patient's history of malrotation, 2.  No evidence of intestinal obstruction,  3.  A gastrocutaneous fistula was not identified on this examination."

This child has been in and out of several area hospitals for at least half a year, on a range of antibiotics (including trial of long term antibiotics via PICC line which was eventually discontinued), to no avail.

He spiked temps to 40C several days ago, with WBCs in the 50k range. Fever resolved with addition of vancomycin to his regimen of tobramycin and cefepime. His cultures have been negative at our hospital, but there are reports of previous recent cultures with pseudomonas at the outside hospital.

Surgeons do not want to operate, stating that it is already draining and there is no discreet abscess nor fistula. Mom reports pretty good wound healing from surgery in the past, while not on fucose.

He has severe failure to thrive (weighs 14kg). He is otherwise stable on room air and NG feeding tube, although mom reports recent weight loss.

Unfortunately, he's been off of fucose since 2007. I have contacted the Pfanstiehl company (USA side) who says that their fucose lot is currently expired, and not available again until mid-July, but they are looking for any left over GMP grade fucose they might have. When it is available, I am not sure that I will be able to get it unless the insurance covers it or they give it to him compassionately (apparently super expensive).

I have a couple of questions:

1. any immunologist out there (Dr. Etzioni?) have access to fucose that we might be able to somehow arrange compassionately for this patient? (this might be complicated)...

2. the possibility of granulocyte infusion +/- plasmapheresis +/- ritux has been considered, but blood bank is hesitant, (and this is also probably even more complicated). Anyone that can share their experience with granulocyte infusion in Bombay blood group patient?

I'm "between a rock and a hard place" as the saying goes...

Thanks for your thoughts, ideas, suggestions, and fucose if you have any...
Elena

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