Authors: James Mui Seng Koon , Cedric Koh Chien Hsiang

Abstract

Background: Common variable immunodeficiency (CVID) is recognized as the most common form of primary immunodeficiency. Despite its prevalence, CVID often remains underdiagnosed due to its heterogenous clinical manifestations and a lack of awareness among healthcare providers. Early and accurate diagnosis is crucial, as it significantly impacts patient management and outcomes. This case report aims to highlight notable features of CVID, emphasizing the importance of enhanced detection and awareness.

Case Presentation: A 39-year-old male, with no significant medical history, presented with recurrent sinopulmonary infections characterized by intermittent fevers and respiratory symptoms over several months. Initial examinations during his first hospital admission revealed patchy lung consolidations and positive tests for human rhinovirus and influenza A. Despite treatment, follow-up was missed, leading to a subsequent hospital admission. Further investigations, including CT scans and biopsies, were negative for infections and malignancies but revealed deficiencies in immunoglobulins IgA, IgM, and IgG. The patient's inadequate response to pneumococcal vaccination confirmed the diagnosis of CVID. He was initiated on intravenous immunoglobulin therapy, aimed at reducing the frequency and severity of infections.

Conclusion: This case underscores the challenge of diagnosing CVID amidst recurrent infections and the pivotal role of immunoglobulin testing in suspected cases. Heightened clinical awareness and consideration of CVID in patients with recurrent sinopulmonary infections are essential. Early intervention with appropriate therapy can significantly improve patient outcomes and quality of life. Further research and education are necessary to address gaps in knowledge and management, especially in regions with limited data on CVID prevalence.

Keywords: Common variable immunodeficiency, recurrent infections, sinopulmonary infections, immunoglobulins, clinician education, case report