Hyperimmunoglobulin E [IgE] syndrome

Description

obsolete_Job's syndrome: ['Primary immunodeficiency syndrome characterized by recurrent infections and hyperimmunoglobulinemia E. Most cases are sporadic. Of the rare familial forms, the dominantly inherited subtype has additional connective tissue, dental and skeletal involvement that the recessive type does not share.']

Data source
FinnGen phenocode D3_HYPERIGESDR
Hospital Discharge registry ICD-10: D824
Cause of Death registry ICD-10: D824
Level in the ICD-hierarchy 4
First defined in version DF2
Ontology
DOID 3261
GWAS catalog 0003775
MESH D007153

Key figures

Sex All Female Male
Number of individuals 6 - -
Unadjusted prevalence (%) 0.0 - -
Mean age at first event (years) 47.03 - -
Case fatality at 5-years (%) 16.67 - -

Longitudinal metrics

Sex All Female Male
Median nb. of events per indiv. 7 - -
Recurrence at 6 months (%) 83.33 - -

Associations

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