Figure 5: Aberrant B-cell phenotype. | Nature Communications

Figure 5: Aberrant B-cell phenotype.

From: Biallelic loss-of-function mutation in NIK causes a primary immunodeficiency with multifaceted aberrant lymphoid immunity

Figure 5

(a) Analysis of mutation frequency in percent mutated bases in rearranged variable regions of switched Ig heavy chains (IGHV) of IgG and IgA isotypes in healthy donors and patients. Analysed sequences from both patients are represented combined. The number of sequences analysed is indicated in brackets. (b) Flow cytometric analysis of the expression of activation markers CD86, CD95, CD25 and CD69, 1 day after in vitro stimulation with CD40L and IL4. Plots are representative of three independent experiments. (c) Flow cytometry analysis of the expression of class-switch markers IgG and IgA at day 6 and 9 after in vitro stimulation with CD40L and IL4. (d) In vitro proliferation of primary lymphocytes after stimulation with CD40L and IL21 or CD40L and IL4. The forward scatter gate indicates percentages of proliferating blasts in parent or patient P1 cultures after 9 days. (e) Flow cytometry analysis of the CD21 expression on CD19+ B cells of a healthy donor (filled grey), P1 (grey line) and P2 (black line). (c–e) Plots represent one experiment. (f) Quantitative reverse transcriptase–PCR analysis of BCL2 expression in sorted peripheral blood naive B cells. BCL2 transcript expression was normalized to GAPDH expression. Mean fold enrichment from one experiment is shown. Error bars denote ±s.d. from three technical replicates.

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