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A Nationwide Study of the Delayed Diagnosis and the Clinical Manifestations of Predominantly Antibody Deficiencies and CTLA4-Mediated Immune Dysregulation Syndrome in Greece

Authors :
Androniki Kapousouzi
Fani Kalala
Styliani Sarrou
Evangelia Farmaki
Nikolaos Antonakos
Ioannis Kakkas
Alexandra Kourakli
Vassiliki Labropoulou
Charikleia Kelaidi
Georgia Tsiouma
Maria Dimou
Theodoros P. Vassilakopoulos
Michael Voulgarelis
Ilias Onoufriadis
Eleni Papadimitriou
Sophia Polychronopoulou
Evangelos J. Giamarellos-Bourboulis
Argiris Symeonidis
Christos Hadjichristodoulou
Anastasios E. Germenis
Matthaios Speletas
Source :
Medicina, Vol 60, Iss 5, p 782 (2024)
Publication Year :
2024
Publisher :
MDPI AG, 2024.

Abstract

Background and Objectives: Predominantly antibody deficiencies (PAD) represent the most common type of primary immunodeficiencies in humans, characterized by a wide variation in disease onset, clinical manifestations, and outcome. Considering that the prevalence of PAD in Greece is unknown, and there is limited knowledge on the clinical and laboratory characteristics of affected patients, we conducted a nationwide study. Materials and Methods: 153 patients (male/female: 66/87; median age: 43.0 years; range: 7.0–77.0) diagnosed, and followed-up between August 1979 to September 2023. Furthermore, we classified our cohort into five groups according to their medical history, immunoglobulin levels, and CTLA4-mutational status: 123 had common variable immunodeficiency (CVID), 12 patients with “secondary” hypogammaglobulinemia due to a previous B-cell depletion immunotherapy for autoimmune or malignant disease several years ago (median: 9 years, range 6–14) displaying a typical CVID phenotype, 7 with combined IgA and IgG subclass deficiencies, 5 patients with CVID-like disease due to CTLA4-mediated immune dysregulation syndrome, and 6 patients with unclassified hypogammaglobulinemia. Results: We demonstrated a remarkable delay in PAD diagnosis, several years after the onset of related symptoms (median: 9.0 years, range: 0–43.0). A family history of PAD was only present in 11.8%, with the majority of patients considered sporadic cases. Most patients were diagnosed in the context of a diagnostic work-up for recurrent infections, or recurrent/resistant autoimmune cytopenias. Interestingly, 10 patients (5.6%) had no history of infection, diagnosed due to either recurrent/resistant autoimmunity, or during a work-up of their medical/family history. Remarkable findings included an increased prevalence of lymphoproliferation (60.1%), while 39 patients (25.5%) developed bronchiectasis, and 16 (10.5%) granulomatous disease. Cancer was a common complication in our cohort (25 patients, 16.3%), with B-cell malignancies representing the most common neoplasms (56.7%). Conclusion: Our findings indicate the necessity of awareness about PAD and their complications, aiming for early diagnosis and the appropriate management of affected patients.

Details

Language :
English
ISSN :
16489144 and 1010660X
Volume :
60
Issue :
5
Database :
Directory of Open Access Journals
Journal :
Medicina
Publication Type :
Academic Journal
Accession number :
edsdoj.9e642387b2d3428fb7933e096a8f5287
Document Type :
article
Full Text :
https://doi.org/10.3390/medicina60050782