Measurement of peripheral B cell subpopulations in common variable immunodeficiency (CVID) using a whole blood method

Autoimmunity and infection in common variable immunodeficiency (CVID).

Common variable immunodeficiency (CVID) is a heterogeneous group of diseases, characterized by primary hypogammaglobulinemia. B and T cell abnormalities have been described in CVID. Typical clinical features of CVID are recurrent airway infections; lymphoproliferative, autoinflammatory, or neoplastic disorders; and autoimmune diseases among which autoimmune thrombocytopenia (ITP) is the most co...

Clinical and Immunological Spectrum of Common Variable Immunodeficiency (CVID).

We have analysed data from 150 patients initially classified as having CVID. About 10% had laboratory abnormalities suggesting known single gene disorders (eg: hyper-IgM syndrome), and in a few a genetic defect has been confirmed. We have attempted to sub-classify the remaining patients by analysis of their circulating lymphocytes. B lymphocyte markers have been used to estimate the numbers of ...

Co-existence of Common Variable Immunodeficiency (CVID) with Idiopathic Thrombocytopenic purpura (ITP)

clinical and immunological spectrum of common variable immunodeficiency (cvid)

we have analysed data from 150 patients initially classified as having cvid. about 10% had laboratory abnormalities suggesting known single gene disorders (eg: hyper-igm syndrome), and in a few a genetic defect has been confirmed. we have attempted to sub-classify the remaining patients by analysis of their circulating lymphocytes. b lymphocyte markers have been used to estimate the numbers of ...

Genetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency

Whole exome sequencing (WES) has proven an effective tool for the discovery of genetic defects in patients with primary immunodeficiencies (PIDs). However, success in dissecting the genetic etiology of common variable immunodeficiency (CVID) has been limited. We outline a practical framework for using WES to identify causative genetic defects in these subjects. WES was performed on 50 subjects ...