hyper IgE recurrent infection syndrome 1

Summary
Synonym
  • Job syndrome
  • Job's syndrome
  • hyperimmunoglobulin E syndrome
Definition
A hyper IgE syndrome that has_material_basis_in heterozygous mutation in the STAT3 gene on chromosome 17q21.
Super Class
autosomal dominant disease hyper IgE syndrome
External Links
Disease Ontology
DOID:3261
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
3383 ICAM1 intercellular adhesion molecule 1
5238 PGM3 phosphoglucomutase 3
6646 SOAT1 sterol O-acyltransferase 1
Related Glycoprotein

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024