ABSTRACT
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.
ABSTRACT
OBJECTIVE: To assess and compare the diagnostic accuracy of the Pediatric Risk of Mortality (PRISM) III score and Pediatric Sequential Organ Failure Assessment (p-SOFA) for the prediction of mortality in critically ill children. METHODOLOGY: This was a cross-validation study conducted at the Pediatric Intensive Care Unit (PICU) of the National Institute of Child Health Karachi from February 2021 to July 2021. Two hundred eighty-six critically ill children of age one month to 15 years of either gender staying in PICU for more than 24 hours were included. Within 24 hours of admission, the p-SOFA and PRISM III 24 scores were calculated for all eligible children. The outcome of the study was mortality within 30 days of PICU admitted children. Data were analyzed using Statistical Package for the Social Sciences (SPSS) version 23. RESULTS: The median age was 24 months (range: 1-144 months). The 30-day mortality was estimated as 57%. The p-SOFA and PRISM scores were significantly greater in children who did not survive than survivors. The maximum p-SOFA score (area under the curve (AUC)=0.81, 95% CI=0.76-0.86, p=0.001) and PRISM III 24 score (AUC=0.75, 95% CI=0.69-0.81, p=0.001) had good discrimination for 30-day mortality. For the prediction of 30-day mortality at the cut-off value of p-SOFA>2, the sensitivity was 93.87%, specificity was 38.21%, and accuracy was 69.93%. Whereas at the cut-off value of PRISM III 24 score>8, the sensitivity was 55.83%, specificity was 77.24%, and accuracy was 65.03%. CONCLUSION: The p-SOFA score is a good predictor for 30-day mortality in critically ill children and had better accuracy than the PRISM III 24 score.