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. 2023 Jan 26;14:1096019. doi: 10.3389/fimmu.2023.1096019

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Copyright © 2023 Dirks, Andres, Paul, Manukjan, Schulze and Morbach

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Lack of surface IgD expression in a fraction of naïve B cells in individuals carrying heterozygous IGHD variants. (A) Pedigree of individuals with heterozygous IGHD variants. Individuals affected by a disease are shown in black. Wild type (wt) and mutant (mut) describes the presence of respective IGHD alleles in each individual. (B) Representative dot plot showing IgD expression on CD19⁺CD27^-IgM⁺ naïve B cells from a control individual as well as an individual carrying a heterozygous IGHD variant. (C) Representative sequencing chromatograms (IGHD, genomic DNA) of 3 individuals with different heterozygous IGHD variants and controls. (D) Compiled flow cytometric data showing the frequency of IgD-negative B cells within CD19⁺CD27^-IgM⁺ naïve B cells in control individuals and family members without (IGHD-wt) or with (IGHD-het.) a heterozygous IGHD variant (One-way ANOVA with Turkey`s multiple comparison). n.s., not significant.