Abstract
Common variable immune deficiency (CVID) is a primary immunodeficiency disease, characterized by hypogammaglobulinemia, recurrent infections and various complications. The clinical heterogeneity of CVID has hindered identification of an underlying immune defect; diagnosis relies on clinical judgement, alongside evidence-based criteria. The lack of pathognomonic clinical or laboratory features leads to average diagnostic delays of 5 years or more from the onset. Vibrational spectroscopic techniques such as Fourier-transform infrared (FTIR) spectroscopy have recently gained increasing clinical importance, being rapid-, non-invasive and inexpensive methods to obtain information on the content of biological samples. This has led us to apply FTIR spectroscopy to the investigation of blood samples from a cohort of CVID patients; revealing spectral features capable of stratifying CVID patients from healthy controls with sensitivities and specificities of 97% and 93%, respectively for serum, and 94% and 95%, respectively for plasma. Furthermore we identified several discriminating spectral biomarkers; wavenumbers in regions indicative of nucleic acids (984 cm−1, 1053 cm−1, 1084 cm−1, 1115 cm−1, 1528 cm−1, 1639 cm−1), and a collagen-associated biomarker (1528 cm−1), which may represent future candidate biomarkers and provide new knowledge on the aetiology of CVID. This proof-of-concept study provides a basis for developing a novel diagnostic tool for CVID.
Highlights
There are no clinical or laboratory features that are pathognomonic for Common variable immune deficiency (CVID)
Multivariate classification techniques can be employed for feature extraction and classification, allowing biochemically-relevant information to be extracted and the automatic grouping of samples into pre-defined categories. This can be achieved using a combination of chemometric algorithms, such as forward feature selection (FFS), principal component analysis linear discriminant analysis (PCA-LDA), and principal component analysis support vector machines (PCA-SVM)
The major aim of this study was the discrimination of CVID patients from healthy controls (HC) in two biofluids; serum and plasma using Fourier-transform infrared (FTIR)-spectroscopy and multivariate analysis techniques
Summary
There are no clinical or laboratory features that are pathognomonic for CVID. Diagnostic criteria have been developed which require sequential application of both clinical and laboratory findings in order to increase the specificity of the diagnosis. An absolute lower limit value of IgG at 4.5 g/L for adults has been proposed, as despite the wide range of IgG levels observed in CVID patients, Chapel and Cunningham-Rundles[2] described the majority of their 334 patients (94.2%) as having initial IgG levels
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