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Genetic evaluation with massive sequencing tools in a large cohort of patients with common variable immunodeficiency (CVID) under immunoglobulin replacement therapy.

Roger Colobran Oriol
Vall d’Hebron Barcelona Hospital Campus (HUVH)

Common Variable Immunodeficiency (CVID) is the most frequent Primary Immunodeficiency (PID) subset, affecting between 1/10.000 and 1/50.000 individuals. Due to its variability in clinical presentation, age and severity, there have been several attempts to standardize the diagnosis of this entity lately because in many cases it is not possible to establish a definitive diagnosis. A rapid diagnosis is essential for these patients in order to start the treatment before developing severe complications. Diagnosis delay is one of the main factors related to a worse clinical and needs to be solved by PID training to health professionals and dissemination of this disease into the society.

It has always been suspected that in the majority of cases CVID has a complex non-mendelian genetic basis. In the last 15 years a number of monogenic defects has been identified (thanks to the use of NGS technologies) in a small percentage of patients (10-20%). The identification of genes that cause monogenic CVID not only has academic interest but also a growing clinical importance as it can allow a targeted treatment to improve the prognosis of the patient. This project will allow optimizing the diagnosis and treatment of CVID patients. 

WGS of 785 individuals of a set of 323 candidate genes-regions from the GCAT project has been shared for the project purposes. Additional dataset of 4998 individuals from the GCATCore dataser of ARRAY-IMPUTED of same candidate genes have been shared.
Samples have a code-cession-specific ID and are under GRPD rules.