Abstract | BACKGROUND: CASE PRESENTATION: We report a 32-year-old female who required cadaveric liver transplantation at the age of 17 for cryptogenic cirrhosis. When the patient developed chronic ductopenia in the allograft 15 years later, we hypothesized that the patient's original disease was due to a deficiency of a biliary transport protein and the ductopenia could be explained by an autoimmune response to neoantigen that was not previously encountered by the immune system. We therefore performed genetic analyses and immunohistochemistry of the native liver, which led to a diagnosis of PFIC3. However, there was no evidence of humoral immune response to the MDR3 and therefore, we assumed that the ductopenia observed in the allograft was likely due to chronic rejection rather than autoimmune disease in the allograft. CONCLUSIONS:
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Authors | Mariam Goubran, Ayodeji Aderibigbe, Emmanuel Jacquemin, Catherine Guettier, Safwat Girgis, Vincent Bain, Andrew L Mason |
Journal | BMC medical genetics
(BMC Med Genet)
Vol. 21
Issue 1
Pg. 238
(11 30 2020)
ISSN: 1471-2350 [Electronic] England |
PMID | 33256620
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- ATP Binding Cassette Transporter, Subfamily B
- Phosphatidylcholines
- multidrug resistance protein 3
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Topics |
- ATP Binding Cassette Transporter, Subfamily B
(deficiency, genetics, immunology)
- Adult
- Biological Transport
- Cholestasis, Intrahepatic
(genetics, immunology, pathology, surgery)
- Female
- Fibrosis
(genetics, immunology, pathology, surgery)
- Gene Expression
- Genes, Recessive
- Heterozygote
- Humans
- Liver
(immunology, pathology, surgery)
- Liver Transplantation
- Phosphatidylcholines
(metabolism)
- Time Factors
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