[PAGID] please post

[Jack Bleesing]

I transplanted a kid (same age) last summer with similar story (minus
the lung disease). He lost his B-cells over time, was labeled
(appropriately) with CVID. Started on IVIG (relatively early in his
disease). Then developed enteropathy/IBD picture. Over a couple of
years, his T-cell system started to become depleted as well. Turned out
to have a hypomorphic FOXP3 sequence variant (looked at because he had a
reduced number of FOXP3+ T-cells, and because of clinical phenotype).

He had a matched sibling; so not to hard to decide what to do with him.
Did well post-BMT

Sirolimus seems like a good idea (entocort, TNF inhibitors, IVIG, TPN,
etc).

J

---------------------------------------------------------------------------
Jack J.H. Bleesing, M.D., Ph.D.
Associate Professor of Pediatrics
Cincinnati Children's Hospital Medical Center
Division of Bone Marrow Transplantation and Immune Deficiency
3333 Burnet Avenue, MLC 7015
Cincinnati, OH 45229
513-636-4266 (phone)
513-636-3549 (fax)



>>> "Routes, John" <jroutes at mcw.edu> 1/20/2010 9:08 AM >>>

I am posting this unusual patient for a colleague at the University of
Virginia ( Larry Borish <LB4M at virginia.edu>) who asked me to comment on
this
unusual patient----thanks

Jack Routes, MD
Chief, Section of Allergy and Clinical Immunology
Professor of Pediatrics, Medicine, Microbiology and Molecular Genetics
Department of Pediatrics
Children's Hospital of Wisconsin
Medical College of Wisconsin
9000 W. Wisconsin Ave.
Milwaukee, WI  53226-4874


"What do you think of a 17 year old kid who 3 years ago developed in
no
particular order: AIHA, autoimmune neutropenia, had his eosinophils
disappear (AEC of 200-300 all his life to 0 for the past 3 years), and
had
his B cell disappear along with all immunoglobulins.  He is in the
hospital
dying of his enteropathy and secondary cachexia.  Other features are
esophageal candidiasis, low testosterone (but nothing else hormonally
including PTH), and maybe Menière's disease.  He has diffuse large
nodular
lung disease and impressive bronchiectasis but nothing I'd call ILD
(also no
thymoma).

  My real question is he is about to be the 2nd antibody deficient
patient
who has died on me in the past 2 years of refractory protein-losing
enteropathy.  Gut shows excessive CD8s but no B cells.  I'm going to
send
you gut DNA for HHV8, what the heck.  Anyway have you ever
successfully
treated refractory enteropathy in an antibody-deficient patient?  I'm
considering infliximab or cyclosporin but thought you might have a
better
idea"