[CIS PIDD] [cis-pidd] CVID+granulomatous disease+hepatopulm syndrome, s/p transplnt, 3y followup

[CIS-PIDD]

Dear Colleagues:

I have a patient who I have posted about here before a few years ago. She is a 37 year old, female, with CVID and granulomatous disease (originally dxd by Dr. Good), and h/o hepatopulmonary syndrome requiring liver transplant. She did very well after transplant, able to wean off of oxygen completely (gradually). She is on SCIG and antibiotic prophylaxis (history of brain abscess).  She is about 3y out from transplant, and continues to do well, except for mild persistent elevations in LFTs.
We are concerned if the transplanted liver could become affected again with the underlying granulomatous disease (?). However, recent bx shows only acute T cell mediated rejection (mild). She is on Cellcept, Prograf, Rapamune [managed by transplant surgeons]. They are lowering her immunosuppression gradually.
Comparison of liver bx before and after tx:
Native liver bx: bridging fibrous septa and nodular architecture characterized by alternating areas of regenerative and atrophic hepatocytes and sinusoidal dilatation, numerous non-necrotizing granulomas identified in perivenular, portal and lobular areas. Hepatic nodules with moderate to focally severe inflammation and microabscesses but markedly diminished and abnormal plasma cells. c/w granulomatous hepatitis with diffuse nodular hyperplasia with features of obliterative portal venopathy compatible with CVID.
Transplanted liver bx (2017):  Acute T cell mediated rejection, mild chronic hepatitis, minimal activity with occasional plasma cells. (Tx date 8/2014)
Gene sequencing at the NIH: no changes in any of the known genes for CVID associated with granulomatous disease. “… two rare, heterozygous, missense variants of unknown significance in CRYZL1 (c.775G>T, p.V259L, EXAC freq 4.9E-03) and IL17F (c.388G>A, p.V130I, EXAC freq 1.0E-04). Functional studies for these variants would need to be performed to determine if it is relevant to her disease. “
 My questions for colleagues:

1.     How best to manage risk for recurrence of granulomatous disease in transplanted liver, any advice on balance of immunosuppression? [Patient is concerned that surgeons are going down on her immunosuppression despite evidence of acute mild rejection].

2.     Could she be a candidate for BMT, now that she is healthier (to prevent granulomatous complications) or is continued immunosuppression enough to prevent progression of her disease? Any colleagues with experience with patients like her?
Thanks for your input/advice!
Elena Perez, MD/PhD
Allergy Associates of the Palm Beaches
561-626-2006
eperez at pballergy.com<mailto:eperez at pballergy.com>

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