Common variable immunodeficiency with predominant abnormalities of B-cell numbers and function

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_BCELL
Hospital Discharge registry ICD-10: D830
Cause of Death registry ICD-10: D830
Level in the ICD-hierarchy 4
First defined in version DF2
Ontology
DOID 12177
GWAS catalog 0000367
MESH D017074

Key figures

Sex All Female Male
Number of individuals 33 19 14
Unadjusted prevalence (%) 0.02 0.02 0.02
Mean age at first event (years) 46.14 46.98 45.01
Case fatality at 5-years (%) 0.0 0.0 0.0

Longitudinal metrics

Sex All Female Male
Median nb. of events per indiv. 2 2 3
Recurrence at 6 months (%) 48.48 36.84 64.29

Associations

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