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• W2162230976 abstract "Common variable immune deficiency (CVID) is a heterogeneous disease associated with ineffective production of antibodies. It is usually diagnosed in adulthood, but a variable proportion of children develop CVID. Early identification of patients with potentially worse prognosis may help to avoid serious complications. The goal of this study was to associate the clinical phenotype of patients with early onset CVID with peripheral B-cell maturation profile. Four color flow cytometry was used to define distribution of peripheral B-cell subsets in 49 children with early-onset CVID. All clinical data were extracted from medical records. A proportion of patients demonstrated diminishing with time total B-lymphocytes pool, beyond physiological age-related changes. Irrespective from duration of the follow-up period the B-cell maturation profile in individual patients remained unchanged. We identified six different aberrant peripheral B cell maturation profiles associated with different clinical characteristics. Patients with an early B-cell maturation block earlier required replacement therapy and were at significantly greater risk of enteropathy, granuloma formation, cytopenia, and lymphoproliferation. B-cell maturation inhibited at the natural effector stage was associated with higher risk of autoimmune manifestations other than autoimmune cytopenia. Prevalence of male patients was observed among patients with B-cell maturation inhibited at naïve B-cell stage. In conclusion, the diagnostic process in patients with suspected early-onset CVID shall include routine analysis of peripheral B-cell maturation to provide surrogate markers identifying patients at greater risk of developing certain complications." @default.
• W2162230976 created "2016-06-24" @default.
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• W2162230976 date "2013-02-07" @default.
• W2162230976 modified "2023-10-13" @default.
• W2162230976 title "Common Variable Immune Deficiency in Children—Clinical Characteristics Varies Depending on Defect in Peripheral B Cell Maturation" @default.
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• W2162230976 doi "https://doi.org/10.1007/s10875-013-9875-4" @default.
• W2162230976 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3631512" @default.
• W2162230976 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23389235" @default.
• W2162230976 hasPublicationYear "2013" @default.
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