Introduction: Primary Immunodeficiencies (PIDs) registries, in an international, national and regional level, are essential to improve the epidemiological analyses, disease knowledge, physician awareness and timely referral to specialists.
Aims: To collect updated local data on distribution and disease burden of PID in Northern Greece.
Methods: The medical charts of 392 patients with PIDs diagnosed at our center during the last 25 years were reviewed.
Results: More than half of patients (51.3%) were diagnosed with antibody deficiencies (IgA deficiency:103, CVID:41, XLA:11, other/unclassified:46). Ninety-eight patients (25.2%) were diagnosed with autoinflammatory diseases (FMF:95, MVK:1, CAPS:2, TRAPS:1), and 6.8% with Well Defined PIDs (Wiskott-Aldrich:5, DiGeorge:9, Ataxia-telangiectasia:3. Hyper-IgE-STAT3:6, other:4). The remaining cases were distributed in Complement Deficiencies (5.4%), Combined Immunodeficiencies (4.3%, SCID:9, Hyper-IgM-CD40L:3, MCHII:4, DOCK8:1), Diseases of Immune Dysregulation (3.8%, ALPS-FAS:7, APECED:5, IPEX-other:3) and Defect of Phagocytes (3%, x-linked-CGD:6, LAD:2, MSMD:2, other:2). Consanguinity was recorded in 1.8% (7 cases) and 44 patients (11.2%) were recorded to be familial cases. A genetic defect was known in 161 of 398 patients (including 85 of 98 children with auto-inflammatory diseases).
Conclusions: In agreement to the literature data, in our study, the antibody deficiencies represent the largest main category of PID. On the contrary, the proportion of auto-inflammatory diseases is higher than reported by registries in other countries, due to the co-existence of the Pediatric Rheumatology Referral Center in our Department and the higher prevalence of the FMF in the Mediterranean Region. Finally, the low proportion of CIDs may be due to low parental consanguinity n our cohort.