Figure 2.
Four mosaic plots show age-stratified distribution of monogenic CVID diagnoses across distinct age groups. Panel A shows the current age group among living patients with documented genetic testing. The x-axis represents age groups in years, and the y-axis represents CVID type, divided into no known genetic defect and monogenic CVID. Red areas indicate monogenic CVID, while blue areas indicate no known genetic defect. Panel B shows the current age group among all patients alive, with the same axes and color scheme as Panel A. Panel C shows the age at disease onset group among genetically tested patients with available age-at-onset data. The x-axis represents age at disease onset in years, and the y-axis represents CVID type, divided into no known genetic defect and monogenic CVID. Panel D shows the age at disease onset group among all patients with available age-at-onset data, with the same axes and color scheme as Panel C. Each panel includes a table below the mosaic plot providing the corresponding absolute patient numbers and percentages within each age group.

Mosaic plots depicting the age-stratified distribution of monogenic CVID diagnoses across distinct age groups. Mosaic plots show the proportion of patients with monogenic CVID versus no known genetic defect across predefined age strata. (A) Current-age group among living patients with documented genetic testing. (B) Current-age group among all patients alive. (C) Age-at-disease-onset group among genetically tested patients with available age-at-onset data. (D) Age-at-disease-onset group among all patients with available age-at-onset data. In each panel, columns correspond to age groups and are scaled according to the number of patients within each age stratum, while the vertical division within each column represents the relative proportion of patients with monogenic CVID and those with no known genetic defect. Red areas indicate monogenic CVID, while blue areas indicate no known genetic defect. Tables below each mosaic plot provide the corresponding absolute patient numbers and percentages within each age group. Together, the plots illustrate the age-dependent enrichment of monogenic diagnoses, particularly among younger patients and patients with pediatric disease onset, and show that this pattern persists after restriction to genetically tested individuals. Interactive HTML versions of the figure panels are available at the following links: (A) https://esid.org/html-pages/Fig2A_Interactive_Mosaic_A_CurrentAge_CVID_Filtered.html; (B) https://esid.org/html-pages/Fig2B_Interactive_Mosaic_B_CurrentAge_CVID_Alive.html; (C) https://esid.org/html-pages/Fig2C_Interactive_Mosaic_C_AgeOnset_CVID_Filtered.html; (D) https://esid.org/html-pages/Fig2D_Interactive_Mosaic_D_AgeOnset_CVID_All.html.

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