Hematological presentation
Forty-seven patients were included in the study. ITP was diagnosed in 38/47 subjects (81%), AIHA in 11/47 (23%) and AIN in 11/47 (23%). ES affected 10/47 individuals (21%), presenting with the following associations: ITP and AIHA in 5/10 cases (50%), ITP and AIN in 2/10 (20%), ITP, AIHA and AIN in 3/10 (30%). IEI prevalence among patients with ITP, AIHA, AIN and ES was respectively of 42%, 64%, 36% and 60% (Fig. 1). IEI+ group counted 19 individuals (40%), affected by CVID (9/19, 47%), ALPS (4/19, 21%), DiGeorge syndrome (DGS) (1/19, 5%) and unclassified IEI (5/19, 26%). IEI- group consisted of 28 subjects (60%). Mean age at initial presentation with immune cytopenias was not significantly higher in IEI+ group (9.7 versus vs 7.9 years, range 0.7–28.5 years; p=0.348) and their mean follow-up was superior in this group (11.3 vs 4.0 years, 0.2-24.9 years; p<0.001), probably due to a more complex clinical course of IEI-related forms. Mean age at time of IEI diagnosis was 15.2 years (6.9-35.1 years) and mean temporal distance between immune cytopenia onset and IEI identification was 5.4 years (-7.0-18.6 years) (Table 2).
Besides hematological presentation, we reported exclusively immunological parameters presenting with a significant difference between the two groups. The other variables analyzed were described in Supplementary table.