hyper IgE recurrent infection syndrome 1

Term ID

DOID:3261

Synonyms

• hyperimmunoglobulin E syndrome
• Job syndrome
• Job's syndrome

Definition

A hyper IgE syndrome that has_material_basis_in heterozygous mutation in the STAT3 gene on chromosome 17q21. https://www.niaid.nih.gov/diseases-conditions/hyper-immunoglobulin-e-syndrome-hies

References

• GARD:6800
• MESH:D007589
• NCI:C126342
• NCI:C126343
• OMIM:147060
• ORDO:2314
• UMLS_CUI:C1968689
• UMLS_CUI:C2936739

Ontology

Human Disease   ( DOID:3261 )