Characterization of pediatric onset common variable immunodeficiency (CVID) in a large cohort

RATIONALE: Pediatric-onset CVID is poorly characterized with a sparse number of dedicated reports that lack longitudinal follow-up to allow for understanding the disease’s impact with time. This study sought to better characterize pediatric CVID in a large cohort of CVID patients followed at an academic center for up to 31 years.

METHODS: We performed a chart review of all patients seen at a large academic institution with a diagnosis code of CVID, ICD-9 279.06 and/or ICD-10 D83.9, (n=204) from January 2005 to 2016. Two reviewers confirmed the diagnosis. Data recorded included disease characteristics, comorbidities, and outcomes. Odds ratios and Fisher tests were utilized to examine trends. This study was IRB approved.

RESULTS: 91 first displayed symptoms at a pediatric age (<18 years), and of these 2/3 were diagnosed within 5 years of symptom onset. The most common infection types were sinusitis, otitis media, pneumonia, bronchitis, and varicella. Autoimmune cytopenias were significantly correlated with pediatric males (p<0.05). Lung nodules, suggesting granulomatous lymphocytic interstitial lung disease, were significantly correlated with pediatric females (p<0.05). Pediatric onset was inversely correlated with cancer development (p<0.05). Deceased patient status (n=13) was correlated with pediatric symptom onset (OR 3.38, p<0.05). Infection was the most common cause of death, and 70% had baseline IgA levels <=6.

CONCLUSIONS: Pediatricians have improved in their recognition of CVID, and should continue to send immunoglobulin levels for patients with recurrent infections and with autoimmune cytopenias. Despite early diagnosis, pediatric-onset CVID was significantly correlated with mortality. Data suggest mortality attributable to secondary immunosuppression to manage comorbidities.