Fig. 2: Phenotypic characterization of peripheral blood lymphocytes in XIAP-deficient patients and their mothers. | Cell Death & Disease

Fig. 2: Phenotypic characterization of peripheral blood lymphocytes in XIAP-deficient patients and their mothers.

From: Epstein Barr virus-mediated transformation of B cells from XIAP-deficient patients leads to increased expression of the tumor suppressor CADM1

Fig. 2: Phenotypic characterization of peripheral blood lymphocytes in XIAP-deficient patients and their mothers.The alternative text for this image may have been generated using AI.

A Graphical depiction of mutations in XIAP patients described in this study. Numbered boxes represent the 6 coding exons of XIAP. B–E Phenotypic characterization in healthy donors (HD, black), including 2 children aged 6 and 10 years (white circles), female carriers (M, blue), and XIAP patients (X, red). Each family was assigned a distinct symbol. B White blood cell count of whole blood determined on the day of blood draw. Each blood donation is shown, number of donations per family were either one, two, or three. C Percentage and total cell count of peripheral CD19+ B cells in HD (n = 19), M (n = 7) and X (n = 6). D Representative flow cytometric plot of naïve, switched-memory (SwMe), non-switched memory (NSM) and double negative (DN) B cells as determined by IgD and CD27 expression. E Frequencies of naïve, SwMe and NSM B cell subsets within all CD19+ cells in HD, M, and X. Error bars represent median + IQR. Statistical significance was calculated using a Mann–Whitney U test, *p < 0.05; **p < 0.01.

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