Immunodeficiency with predominantly antibody defects

Description

obsolete_sarcoidosis: ['An idiopathic inflammatory disorder characterized by the formation of non-necrotizing epithelioid granulomas which contain giant cells. It usually affects the lungs, lymph nodes, liver, and skin.', 'An idiopathic systemic inflammatory granulomatous disorder comprised of epithelioid and multinucleated giant cells with little necrosis. It usually invades the lungs with fibrosis and may also involve lymph nodes, skin, liver, spleen, eyes, phalangeal bones, and parotid glands.']

Data source
FinnGen phenocode D3_IMMUDEFANTIBODY
Hospital Discharge registry ICD-10: D80
Cause of Death registry ICD-10: D80
Include D3_HEREDHYPOGAMMA, D3_NONHEREDHYPOGAMMA, D3_DEF_IIGA, D3_DEF_IGG, D3_DEF_IGM, D3_IMMUDEF_INCR_IGM, D3_AB_DEF_NORMHYPERIG, D3_TRANSHYPOGAMMAINFANT, D3_IMMUDEFANTIBODYNAS
Level in the ICD-hierarchy 3
First defined in version DF2
Ontology
DOID 11335
GWAS catalog 0000690

Key figures

Sex All Female Male
Number of individuals 208 144 64
Unadjusted prevalence (%) 0.16 0.19 0.11
Mean age at first event (years) 47.07 47.01 47.2
Median number of events / individual 4 5 3

Clinical metrics

Sex All Female Male
Recurrence within 6 months (%) 65.38 69.44 56.25
Case fatality at 5-years (%) 4.81 4.17 6.25

Associations