Expanded phenotype evaluation of patients with primary immunodeficiencies with dysregulation

MARTINEZ MARÍA PAULA; GAILLARD, MARÍA ISABEL; SEMINARIO, GISELA; CALDIROLA, MARÍA SOLEDAD; BEZRODNIK, LILIANA

Encuentro; 2020 CIS ANNUAL MEETING; 2020

Introduction: primary immunodeficiencies with dysregulation associate defects in the immune homeostasis leading to inappropriate immune response (lack or excess) that causes autoimmunity, allergy and/or inflammation. Impairment of different subsets of T and B compartments may be associated with these PIDs. Aim: 1) Describe T and B memory compartment of 18 PID patients (pts) with dysregulation: 1 CD25 deficiency, 3 STAT1 GOF, 1 STAT5b deficiency, 4 CTLA4 variant, 2 PI3KCD variant and 6 CVID-like (with no molecular defect) and compare them with a group of healthy donors (HD). 2) Associate cTfh profile with B cell compartment impairment. Results: 1) Pts showed a significant decrease of Naïve CD4+ T cells (CD45RA+CD27+) (52,2% vs 17,6%) (p