[CIS PIDD] [cis-pidd] CD40L

[CIS-PIDD]

Hello Blachy

A neuroendocrine tumor in this age group would be very unusual but would not completely surprise me in a XHIGM patient.

I agree with you and would pursue further testing.  You may consider

1.       checking 5-HIAA, VIP, gastrin chromgraninA, neron specific enolase and pancreatic polypeptide etc. That said, most likely negative

2.       Alternatively, Octreotide scan or PETscan
Cryptosporidium can be tricky to pick up despite PCR. My anecdotal experience with a DOCK8 with sclerosing cholangitis: Stool PCR studies always negative for crypto but the liver explant, at time of liver transplant, had Crypto in abundance...

Maite


M Teresa (Maite) de la Morena, MD
Professor of Pediatrics  and Internal Medicine
Division of Allergy and Immunology
University of Texas Southwestern Medical Center in Dallas
5323 Harry HInes Blvd
Dallas, Texas 75390-9063
Phone 214 456-5161
Fax: 214 456-8317
Email: maite.delamorena at utsouthwestern.edu



From: cis-pidd at lyris.dundee.net [mailto:cis-pidd at lyris.dundee.net] On Behalf Of CIS-PIDD
Sent: Tuesday, August 29, 2017 7:22 PM
To: CIS-PIDD
Subject: [cis-pidd] CD40L

Dear all;

We are caring for a 2 y/o male with CD40L deficiency who is being worked up for BMT.  He had MRSA and PJP at diagnosis but has been doing very well for over a year, on bactrim, hizentra, and azithro prophylaxis.  As part of his workup, he underwent an abdominal CT scan, which shows mild periportal edema.  He has normal liver enzymes and normal bilirubin, with normal synthetic function, and has never had concern for liver disease.  He has been tested multiple times for crypto and been negative.

He appears quite well, but I am concerned about this finding prior to transplant (we were planning myeloablative busulfan dosing).  Has anyone seen this before, at such an early age and in the absence of crypto?  I am leaning towards further testing but was interested in the group's experience.

Thanks in advance.

-Blachy


Blachy J. Dávila Saldaña, MD
Attending Physician, Division of Blood and Marrow Transplantation
Children's National Health System
Assistant Professor of Pediatrics
George Washington University School of Medicine and Health Sciences
111 Michigan Avenue, N.W.
Washington, DC 20010
Phone: 202-476-4561
Fax: 202-476-2280
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