Common variable immunodeficiency with predominant abnormalities of T-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_TCELL
Hospital Discharge registry ICD-10: D831, ICD-9: 2791X
Cause of Death registry ICD-10: D831, ICD-9: 2791X
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 18 15 -
Unadjusted prevalence (%) 0.01 0.02 -
Mean age at first event (years) 55.68 55.14 -
Case fatality at 5-years (%) 11.11 13.33 -

Longitudinal metrics

Sex All Female Male
Median nb. of events per indiv. 1 1 -
Recurrence at 6 months (%) 38.89 40.0 -

Associations

Loading associations…