Panel A shows the age at onset for patients who underwent HCT versus those who did not, with the y-axis labeled Age at onset and the x-axis labeled HCT. Panel B compares the age at onset for patients with enteropathy or inflammatory bowel disease versus those without, with the y-axis labeled Age at onset and the x-axis labeled Enteropathy or inflammatory bowel disease. Panel C displays the age in relation to immunoglobulin M levels at the first consultation, with the y-axis labeled Age and the x-axis labeled Immunoglobulin M level at first consultation. Panel D shows the age in relation to immunoglobulin A levels at the first consultation, with the y-axis labeled Age and the x-axis labeled Immunoglobulin A level at first consultation. Panel E illustrates adenosine deaminase 2 activity in relation to variant adenosine deaminase 2 activity, with the y-axis labeled Adenosine deaminase 2 activity, milliUnits per gram, and the x-axis labeled Genotype: Variant adenosine deaminase 2 activity. Panel F compares adenosine deaminase 2 activity in patients who underwent HCT versus those who did not, with the y-axis labeled Adenosine deaminase 2 activity, milliUnits per gram, and the x-axis labeled HCT. Panel G shows adenosine deaminase 2 activity in relation to the presence of neutropenia, with the y-axis labeled Adenosine deaminase 2 activity, milliUnits per gram, and the x-axis labeled Neutropenia. Panel H compares adenosine deaminase 2 activity in patients with ulcerations or aphthae versus those without, with the y-axis labeled Adenosine deaminase 2 activity, milliUnits per gram, and the x-axis labeled Ulcerations or aphthae. Panel I shows adenosine deaminase 2 activity in relation to the presence of polyarteritis nodosa, with the y-axis labeled Adenosine deaminase 2 activity, milliUnits per gram, and the x-axis labeled Polyarteritis nodosa. Panel J compares adenosine deaminase 2 activity in patients with livedo racemosa versus those without, with the y-axis labeled Adenosine deaminase 2 activity, milliUnits per gram, and the x-axis labeled Livedo racemosa. Panel K shows adenosine deaminase 2 activity in relation to the presence of ischemic stroke, with the y-axis labeled Adenosine deaminase 2 activity, milliUnits per gram, and the x-axis labeled Ischemic stroke. Panel L compares adenosine deaminase 2 activity in patients with hemorrhagic stroke versus those without, with the y-axis labeled Adenosine deaminase 2 activity, milliUnits per gram, and the x-axis labeled Hemorrhagic stroke. Each box plot shows the median, 25th and 75th percentiles, and whiskers with minimum and maximum values or 1.5 times the interquartile range with outliers. Significance levels are based on Welch's t-test.
DADA2 phenotypes follow distinct demographic, clinical, therapeutic, genetic, and biochemical correlations. Relation of clinical phenotype, age at disease onset, age, ex vivo ADA2 enzymatic activity, and allele activity in vitro. Boxplots show median, 25th, and 75th percentile, and whiskers with minimum/maximum value (or 1.5 × interquartile range with outliers). Significance levels based on Welch’s t test. (A and B) Age of disease onset depending on whether patients underwent HCT or suffered from enteropathy or IBD. (C and D) Levels of IgM and IgA at first consultation in relation to age. (E) Patient ADA2 activity (ex vivo) in relation to the variant ADA2 activity (determined in vitro). (F) Patient ADA2 activity in patients that underwent HCT and those that did not. (G–L) Patient ADA2 activity depending on the presence of certain disease phenotypes. *P < 0.05, **P < 0.01, ***P < 0.001.