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.