Bile salt export pump-reactive antibodies form a polyclonal, multi-inhibitory response in antibody-induced bile salt export pump deficiency

Hepatology

Volumn 63, Issue 2, 2016, Pages 524-537

  Stindt, Jan ^a   Kluge, Stefanie ^a   Dröge, Carola ^a   Keitel, Verena ^a   Stross, Claudia ^a   Baumann, Ulrich ^b   Brinkert, Florian ^c   Dhawan, Anil ^d   Engelmann, Guido ^e,f   Ganschow, Rainer ^c,g   Gerner, Patrick ^h,i   Grabhorn, Enke ^c   Knisely, A S ^d,p   Noli, Khalid A ^j   Pukite, Ieva ^k   Shepherd, Ross W ^l   Ueno, Takehisa ^m   Schmitt, Lutz ⁿ   Wiek, Constanze ^a   Hanenberg, Helmut ^a   Häussinger, Dieter ^a   Kubitz, Ralf ^a,o   more..

^a Department of Orthopedic Surgery   (Germany)

^b HANNOVER MEDICAL SCHOOL   (Germany)

^c UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^d KING S COLLEGE HOSPITAL   (United Kingdom)

^e UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^f Lukaskrankenhaus GmbH   (Germany)

^g UNIVERSITY HOSPITAL BONN   (Germany)

^h UNIVERSITY HOSPITAL ESSEN   (Germany)

ⁱ UNIVERSITY OF FREIBURG   (Germany)

^j DHAHRAN HEALTH CENTER   (Saudi Arabia)

^k CHILDREN'S CLINICAL UNIVERSITY HOSPITAL   (Latvia)

^l BAYLOR COLLEGE OF MEDICINE   (United States)

^m OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

ⁿ HEINRICH HEINE UNIVERSITY   (Germany)

^o Krankenhaus Bethanien   (Germany)

^p MEDICAL UNIVERSITY OF GRAZ   (Austria)

more..

Author keywords

[No Author keywords available]

Indexed keywords

BILE SALT EXPORT PUMP; IMMUNOGLOBULIN G; POLYCLONAL ANTIBODY; TAUROCHOLIC ACID; ABC TRANSPORTER; ABCB11 PROTEIN, HUMAN; ANTIBODY;

ANIMAL TISSUE; ANTIBODY INDUCED BILE SALT EXPORT PUMP DEFICIENCY; ANTIBODY RESPONSE; ANTIGEN BINDING; ARTICLE; CONTROLLED STUDY; GENE SEQUENCE; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; INTRAHEPATIC CHOLESTASIS; LIVER BIOPSY; MALE; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; RAT; WESTERN BLOTTING; ADOLESCENT; BLOOD; CHILD; DEFICIENCY; FEMALE; GENETICS; IMMUNOLOGY; LIVER TRANSPLANTATION; MUTATION; POSTOPERATIVE COMPLICATION; YOUNG ADULT;

ADOLESCENT; ANTIBODIES; ATP-BINDING CASSETTE TRANSPORTERS; CHILD; CHOLESTASIS, INTRAHEPATIC; FEMALE; HUMANS; LIVER TRANSPLANTATION; MALE; MUTATION; POSTOPERATIVE COMPLICATIONS; YOUNG ADULT;

EID: 84956724129     PISSN: 02709139     EISSN: 15273350     Source Type: Journal    
DOI: 10.1002/hep.28311     Document Type: Article

References (35)

1. Strautnieks SS, Bull LN, Knisely AS, Kocoshis S, Dahl N, Arnell H, et al. A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Nat Genet 1998;20:233-238.
2. Jacquemin E, De Vree JM, Cresteil D, Sokal EM, Sturm E, Dumont M, et al. The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood. Gastroenterology 2001;120:1448-1458.
3. Jacquemin E. Progressive familial intrahepatic cholestasis. Clin Res Hepatol Gastroenterol 2012;36(Suppl 1):S26-S35.
4. Bull LN, van Eijk MJ, Pawlikowska L, DeYoung JA, Juijn JA, Liao M, et al. A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. Nat Genet 1998;18:219-224.
5. van der Woerd WL, van Mil SW, Stapelbroek JM, Klomp LW, van de Graaf SF, Houwen RH. Familial cholestasis: progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy. Best Pract Res Clin Gastroenterol 2010;24:541-553.
6. Ruetz S, Gros P. Phosphatidylcholine translocase: a physiological role for the mdr2 gene. Cell 1994;77:1071-1081.
7. Deleuze JF, Jacquemin E, Dubuisson C, Cresteil D, Dumont M, Erlinger S, et al. Defect of multidrug-resistance 3 gene expression in a subtype of progressive familial intrahepatic cholestasis. Hepatology 1996;23:904-908.
8. Smit JJ, Schinkel AH, Oude Elferink RP, Groen AK, Wagenaar E, van Deemter L, et al. Homozygous disruption of the murine mdr2 P-glycoprotein gene leads to a complete absence of phospholipid from bile and to liver disease. Cell 1993;75:451-462.
9. Gerloff T, Stieger B, Hagenbuch B, Madon J, Landmann L, Roth J, et al. The sister of P-glycoprotein represents the canalicular bile salt export pump of mammalian liver. J Biol Chem 1998;273:10046-10050.
10. Kubitz R, Dröge C, Stindt J, Weissenberger K, Häussinger D. The bile salt export pump (BSEP) in health and disease. Clin Res Hepatol Gastroenterol 2012;36:536-553.
11. Aydogdu S, Cakir M, Arikan C, Tumgor G, Yuksekkaya HA, Yilmaz F, Kilic M. Liver transplantation for progressive familial intrahepatic cholestasis: clinical and histopathological findings, outcome and impact on growth. Pediatr Transplant 2007;11:634-640.
12. Knisely AS, Portmann BC. Deficiency of BSEP in PFIC with hepatocellular malignancy. Pediatr Transplant 2006;10:644-645; author reply, 646.
13. Jansen PL, Strautnieks SS, Jacquemin E, Hadchouel M, Sokal EM, Hooiveld GJ, et al. Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis. Gastroenterology 1999;117:1370-1379.
14. Keitel V, Burdelski M, Warskulat U, Kühlkamp T, Keppler D, Häussinger D, Kubitz R. Expression and localization of hepatobiliary transport proteins in progressive familial intrahepatic cholestasis. Hepatology 2005;41:1160-1172.
15. Strautnieks SS, Byrne JA, Pawlikowska L, Cebecauerova D, Rayner A, Dutton L, et al. Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families. Gastroenterology 2008;134:1203-1214.
16. Scheimann AO, Strautnieks SS, Knisely AS, Byrne JA, Thompson RJ, Finegold MJ. Mutations in bile salt export pump (ABCB11) in two children with progressive familial intrahepatic cholestasis and cholangiocarcinoma. J Pediatr 2007;150:556-559.
17. van Mil SW, Houwen RH, Klomp LW. Genetics of familial intrahepatic cholestasis syndromes. J Med Genet 2005;42:449-463.
18. Keitel V, Burdelski M, Vojnisek Z, Schmitt L, Häussinger D, Kubitz R. De novo bile salt transporter antibodies as a possible cause of recurrent graft failure after liver transplantation: a novel mechanism of cholestasis. Hepatology 2009;50:510-517.
19. Jara P, Hierro L, Martinez-Fernandez P, Alvarez-Doforno R, Yanez F, Diaz MC, et al. Recurrence of bile salt export pump deficiency after liver transplantation. N Engl J Med 2009;361:1359-1367.
20. Maggiore G, Gonzales E, Sciveres M, Redon MJ, Grosse B, Stieger B, et al. Relapsing features of bile salt export pump deficiency after liver transplantation in two patients with progressive familial intrahepatic cholestasis type 2. J Hepatol 2010;53:981-986.
21. Siebold L, Dick AA, Thompson R, Maggiore G, Jacquemin E, Jaffe R, et al. Recurrent low gamma-glutamyl transpeptidase cholestasis following liver transplantation for bile salt export pump (BSEP) disease (posttransplant recurrent BSEP disease). Liver Transpl 2010;16:856-863.
22. Lin HC, Alvarez L, Laroche G, Melin-Aldana H, Pfeifer K, Schwarz K, et al. Rituximab as therapy for the recurrence of bile salt export pump deficiency after liver transplantation. Liver Transpl 2013;19:1403-1410.
23. Kubitz R, Keitel V, Scheuring S, Köhrer K, Häussinger D. Benign recurrent intrahepatic cholestasis associated with mutations of the bile salt export pump. J Clin Gastroenterol 2006;40:171-175.
24. den Dunnen JT, Antonarakis SE. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 2000;15:7-12.
25. Noe J, Stieger B, Meier PJ. Functional expression of the canalicular bile salt export pump of human liver. Gastroenterology 2002;123:1659-1666.
26. Geertsma ER, Nik Mahmood NA, Schuurman-Wolters GK, Poolman B. Membrane reconstitution of ABC transporters and assays of translocator function. Nat Protoc 2008;3:256-266.
27. Kubitz R, Wettstein M, Warskulat U, Häussinger D. Regulation of the multidrug resistance protein 2 in the rat liver by lipopolysaccharide and dexamethasone. Gastroenterology 1999;116:401-410.
28. Stindt J, Ellinger P, Weissenberger K, Dröge C, Herebian D, Mayatepek E, et al. A novel mutation within a transmembrane helix of the bile salt export pump (BSEP, ABCB11) with delayed development of cirrhosis. Liver Int 2013;33:1527-1535.
29. Dawson RJ, Locher KP. Structure of the multidrug ABC transporter Sav1866 from Staphylococcus aureus in complex with AMP-PNP. FEBS Lett 2007;581:935-938.
30. Kubitz R, Dröge C, Kluge S, Stross C, Walter N, Keitel V, et al. Autoimmune BSEP disease: disease recurrence after liver transplantation for progressive familial intrahepatic cholestasis. Clin Rev Allergy Immunol 2015;48:273-284.
31. Klein L, Kyewski B, Allen PM, Hogquist KA. Positive and negative selection of the T cell repertoire: what thymocytes see (and don't see). Nat Rev Immunol 2014;14:377-391.
32. Xing Y, Hogquist KA. T-cell tolerance: central and peripheral. Cold Spring Harb Perspect Biol 2012;4:a006957.
33. Pelanda R, Torres RM. Central B-cell tolerance: where selection begins. Cold Spring Harb Perspect Biol 2012;4:a007146.
34. Raimondi G, Zanoni I, Citterio S, Ricciardi-Castagnoli P, Granucci F. Induction of peripheral T cell tolerance by antigen-presenting B cells. I. Relevance of antigen presentation persistence. J Immunol 2006;176:4012-4020.
35. Raimondi G, Zanoni I, Citterio S, Ricciardi-Castagnoli P, Granucci F. Induction of peripheral T cell tolerance by antigen-presenting B cells. II. Chronic antigen presentation overrules antigen-presenting B cell activation. J Immunol 2006;176:4021-4028.