Registries are useful tools for better understanding the epidemiology of primary immunodeficiencies (PID) and to address the issues on morbidity, mortality, treatment efficiency and outcomes of the patients.
The Czech registry (CzR) of PID was established in 2012. Presented data were collected from 18 centres (2012-2018).
CzR contains data of 1,066 patients (558 females, 508 males). Antibody deficiencies were the most common group of PID (625) [CVID (376; 60.4 %), IgG subclass deficiency (80; 12.8 %), symptomatic selective IgA deficiency (45; 7.2 %) and XLA (35; 5.6 %)] followed by well-defined immunodeficiencies (180) [Di George syndrome (140; 77.8 %), Wiskott-Aldrich syndrome (9; 5.0 %), hyper-IgE syndrome and Nijmegen breakage syndrome (7; 3.9 %), chronic mucocutaneous candidiasis (5; 2.8 %), X-linked lymphoproliferative syndrome (2; 1.1 %), ataxia telangiectasia (1; 0.6 %)], complement disorders (177) [HAE type I (145; 81.9 %), type II (21; 11.9 %), type III (1; 0.6 %), C2 deficiency (7; 4.0 %)]. Other diagnoses (84) were: phagocytosis disorders (28) [CGD (18; 64.3 %), specific granule deficiency (4; 14.3 %), myeloperoxidase deficiency (2; 7.1 %) and LAD syndrome (1; 3.6 %)], combined immunodeficiencies (26) [different forms of SCID were reported in 17 patients], autoinflammatory syndromes (19), hemophagocytic syndromes (8) and T-lymphocyte deficiencies (3).
It is difficult to determine how many patients have not been entered into the database or have not been identified yet. Nevertheless, the spectrum of PID in the Czech national registry does not differ significantly from the data in the European Registry (ESID).