Volume 64, Issue 5, Pages (May 2016)

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Volume 64, Issue 5, Pages 1190-1193 (May 2016) Single-gene association between GATA-2 and autoimmune hepatitis: A novel genetic insight highlighting immunologic pathways to disease Gwilym Webb, Yung-Yi Chen, Ka-Kit Li, Desley Neil, Ye Htun Oo, Alex Richter, Venetia Bigley, Matthew Collin, David H. Adams, Gideon M. Hirschfield Journal of Hepatology Volume 64, Issue 5, Pages 1190-1193 (May 2016) DOI: 10.1016/j.jhep.2016.01.017 Copyright © 2016 European Association for the Study of the Liver Terms and Conditions

Fig. 1 Liver histopathology. (A) Transjugular liver biopsy sample demonstrating dense lymphocytic infiltrate with interface hepatitis consistent with AIH (haematoxylin and eosin; 20×). (B) Fibrosis bridging between portal areas (Van Gieson; 20×). (C and D) Cells positive for the Treg transcription factor FOXP3 were scant in the inflammatory infiltrate of patient liver (C), but more frequent in a control AIH sample (D) (both 32×; example positive staining denoted by arrowheads). (E and F) CD20-positive B cells were present in patient liver biopsy specimen (E) in contrast to peripheral blood but at a reduced frequency to a control AIH sample (F; 32×). (This figure appears in colour on the web.) Journal of Hepatology 2016 64, 1190-1193DOI: (10.1016/j.jhep.2016.01.017) Copyright © 2016 European Association for the Study of the Liver Terms and Conditions

Fig. 2 Immunophenotyping by flow cytometry. (A) Flow cytometric analysis of peripheral blood demonstrated antigen-presenting cell deficiencies and leukocytopenias in multiple subsets with preserved total T cells. (B) Analysis of T cell populations revealed minimal CD25lowCD127hi cells and no evidence of expression of the transcription factor FOXP3 in a patient sample. This confirmed a marked deficiency in Treg. Approximately 8% of peripheral CD4+ T cells were CD25lowCD127hiFOXP3+Treg in a control sample. The absence of CD3-negative cells (blue gate, second panel) highlights B- and NK-cell deficiency. CD4:CD8 ratio was altered from the CD4-predominance seen in normality to equality, as reported in GATA2 dysfunction. (This figure appears in colour on the web.) Journal of Hepatology 2016 64, 1190-1193DOI: (10.1016/j.jhep.2016.01.017) Copyright © 2016 European Association for the Study of the Liver Terms and Conditions