Suspected Pediatric-Onset Common Variable Immune Deficiency (CVID) in a Seven-Year-Old Female With Pulmonary...

Common variable immune deficiency (CVID) is the most common of all primary immunodeficiency rare diseases characterized by hypogammaglobulinemia. This is caused by the defective functioning of B-cells and T-cells, resulting in recurrent infections. Its etiology is unknown but most commonly initiated due to epigenetic factors and epistatic interactions. Moreover, it has a bimodal age distribution and can be more evident from infancy to after 4th decade of life. Herein, a seven-year-old female, the first product of consanguineous marriage with no family history of immunodeficiency disorders, presented predominantly with sinopulmonary involvement. It manifested as severe pulmonary pneumonia, atelectasis, patchy alveolar infiltrates, and lung nodules. She also had a history of diarrhea and otitis media. Despite having a history of recurrent infections since three years of age, she was diagnosed late due to a lack of awareness and knowledge about the presentation of CVID and its different manifestations among the medical community in Pakistan. The diagnosis of CVID is based on the clinical and immunological manifestation of the patient with respect to the European Society of Immune Deficiencies (ESID) diagnostic criteria. Therefore, genetics help detect mutations leading to CVID and establish a genetic diagnosis for CVID-like disorders. However, genetic panel testing is not used as a diagnostic tool in Pakistan due to the unavailability of resources. Instead, the clinical presentation, abnormal lymphocytic counts, and immunoglobulin levels may help diagnose CVID. Early diagnosis will help in the timely utilization of the most effective treatment and management options available. These include intravenous immunoglobulin (IVIG) and hematopoietic stem cell therapy. Ig replacement therapy has shown a beneficial role in halting the cycle of recurrent infections and improving the prognosis of CVID. However, it's a bit expensive therapy. Moreover, the role of hematopoietic stem cell therapy in treating CVID has been documented, but it's not so common and practical.