[CIS-PAGID] Cryptosporidium in CD40L

[Chinen, Javier]

We have one patient  who similarly did not clear Crypto despite all antibiotics, diarrhea was not that severe, though developed progressive sclerosing cholangitis with persistent Bilirrubin elevation starting at 6-7 years of age, with images and biopsy that were not quite convincing to GI and expert liver pathologists, had a MUD BMT at age 10, Crypto was negative afterwards, but ended up with a liver transplant at age 14 because of liver failure.  Now at 17 he is well, though with immunosuppresive drugs. In this patient BMT helped to clear infection, but did not stop progression of the sclerosing cholangitis.
 Other 2 CD40L who cleared Crypto did not develop scleorsing cholangitis.( as yet, but we continue monitoring for Crypto antigen after 3 and 5 years)
Javier

________________________________
From: "Puck, Jennifer" <puckj at peds.ucsf.edu>
Sender: "pagid-bounces at list.clinimmsoc.org" <pagid-bounces at list.clinimmsoc.org>
Date: Sun, 22 May 2011 12:55:42 -0400
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Subject: [CIS-PAGID] Cryptosporidium in CD40L


Would appreciate ideas for a young man with CD40L deficiency and a bad case of cryptosporidium. He was previously healthy on immunoglobulin, G-CSF for neutropenia, and TMP/SMX 3x per week for prophylaxis against pneumocystis (his presenting infection in infancy).
He first got a headache and then diarrhea 6-8 weeks ago, and his stool was positive for cryptosporidium as an outpatient. The diarrhea became explosive and bloody requiring hospital admission, and he continued to have secretory diarrhea and positive stools despite paromomycin, nitazoxanide, and azithromycin and TPN/complete NPO bowel rest.

There is no HLA-matched sibling for BMT, and we are looking at the unrelated donor registry. BMT may be the best long term option, and I have read that BMT be required to clear the infection.

Do others have experience with severe cryptosporidium in CD40L deficiency? Will symptoms eventually subside? What type of lab tests and imaging are useful to follow these patients? LFTs? Ultrasound? MRI? Endoscopy? Will attempts at oral feeding be helpful, neutral, or just induce further diarrhea and delay gut healing?

Jennifer M. Puck, M.D.
Professor of Pediatrics
University of California, San Francisco, Box 0519
513 Parnassus Avenue, HSE 301A
San Francisco, CA  94143-0519

Email: puckj at peds.ucsf.edu
Phone: 415 476-3181
FAX: 415 502-5127

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