Overview of humoral immunodeficiencies with emphasis on specific antibody deficiency: A study at a tertiary care center
DOI:
https://doi.org/10.55629/pakjpathol.v37i3.1036Abstract
Objective: To identify the spectrum of humoral immunodeficiencies, particularly Specific Antibody Deficiency (SAD), and evaluate their clinical and immunophenotypic characteristics in a tertiary care setting.
Material and Methods: This analytical cross-sectional study was conducted at the Department of Immunology, Armed Forces Institute of Pathology (National University of Medical Sciences), Rawalpindi, Pakistan, from January 2020 to December 2024. Patients of all ages meeting ESID/PAGID criteria for agammaglobulinemia, selective IgA deficiency (SIgAD), common variable immunodeficiency (CVID), transient hypogammaglobulinemia of infancy (THI), or specific antibody deficiency (SAD) were included. Pneumococcal vaccine responses were assessed using WHO ELISA. Serum IgG, IgA, and IgM were measured by radial immunodiffusion, total IgE by ELISA, and B-cell subsets by flow cytometry (FACSCanto II™, BD Biosciences). Data were analyzed using SPSS version 27, with p<0.05 considered significant.
Results: Forty-five patients had humoral PID: agammaglobulinemia (44.4%), SIgAD (26.7%), CVID (13.3%), SAD (11.1%), and THI (4.4%). SAD patients had the longest diagnostic delay (1.2 years; IQR 1.0–2.0), latest onset (8.0 years; IQR 5.5–10.0), and 80% prevalence of asthma and atopy. Switched memory B cells were significantly lower in SAD than controls (4.5 ± 1.67 vs. 9.4 ± 2.94; p = 0.003; Cohen’s d = −1.835).
Conclusion: Agammaglobulinemia was the most prevalent humoral PID, while SAD comprised 11.1% of cases and exhibited distinct clinical and immunophenotypic features. Functional antibody testing and B-cell phenotyping are important for early diagnosis of SAD in Pakistan.
Keywords: B-Lymphocytes, Immunodeficiency, Immunophenotyping, Pneumococcal vaccines, Specific antibody deficiency.
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