Common variable immunodeficiency

Description

obsolete_common variable immunodeficiency: ['A hypogammaglobulinemia that is results in insufficient production of antibodies needed to respond to exposure of pathogens and is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells. Patients with common variable immunodeficiency have marked reduction in serum levels of both immunoglobulin G (IgG) and immunoglobulin A (IgA); about half of these patients also have reduced immunoglobulin M (IgM).', 'A primary immunodeficiency characterized by low levels or absence of all the immunoglobulin classes and lack of B-lymphocytes or plasma cells. It results in recurrent bacterial infections. Complications include autoimmune phenomena and cancer development.', 'Heterogeneous group of immunodeficiency syndromes characterized by hypogammaglobulinemia of most isotypes, variable B-cell defects, and the presence of recurrent bacterial infections.']

Data source
FinnGen phenocode D3_CVID
Hospital Discharge registry ICD-10: D83
Cause of Death registry ICD-10: D83
Include D3_CVID_BCELL, D3_CVID_TCELL, D3_CVID_BT_CELL_AB, D3_CVIDNAS
Level in the ICD-hierarchy 3
First defined in version DF2
Ontology
DOID 12177
GWAS catalog 0000367

Key figures

Sex All Female Male
Number of individuals 52 35 17
Unadjusted prevalence (%) 0.04 0.05 0.03
Mean age at first event (years) 49.19 50.72 46.04
Median number of events / individual 2 2 2

Clinical metrics

Sex All Female Male
Recurrence within 6 months (%) 50.0 48.57 52.94
Case fatality at 5-years (%) 7.69 11.43 0.0

Associations