Background and Aims

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

Methods: The medical charts of 392 patients with PIDs diagnosed at our center during the last 25 years were reviewed.

Results

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

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.

Background and Aims

Introduction: CVID represents the most common symptomatic PID with a high variability in clinical presentation.

Objectives: To record the clinical phenotypes of CVID patients diagnosed at our Referral Center during the last 20 years

Methods

Methods: Forty-one patients with CVID (male:23), diagnosed according to the recent ESID criteria, were evaluated. The age at diagnosis was 6-33 years (median: 17years) and the duration of follow-up 1-19 years. (median: 7.5 years)

Results

Results: The major phenotypes of CVID patients at diagnosis were: a) increased susceptibility to respiratory infections (80.5%), [infections only (26.8%), with bronchiectasis/interstitial lung disease (19.5%), in association with autoimmunity with or without lymphoproliferation (24.3% and 9.7%, respectively)], b) autoimmune cytopenias or lymphoid malignancies only (14.6%) c) enteropathy only (4.8%). More than one autoimmune disorders presented 26.8% of the patients, with thrombocytopenia and thyroid disease representing the most common diseases. Four CVID cases was diagnosed after rituximab use for the treatment of idiopathic thrombocytopenic purpura (2 patient) and Non-Hodgkin lymphomas (2). The lag time to diagnosis was 6.5 years (1-14 years). Genetic analysis was performed in 16/41 patients and TACI mutations were detected in 2 of them (12.5%)

Conclusions

Conclusions: The infections were the only manifestation in just 1/3 of the patients with CVID. Autoimmune cytopenias in association with lymphoproliferation was the most common presenting or/and major manifestation of the disease. Rituximab might be a triggering factor for CVID emergence and patients with hematologic autommunity or malignancies should be closely monitored for immunoglobulin levels, both before and after rituximab treatment.