hyper IgE syndrome

Summary
Synonym
  • hyper immunoglobulin E syndrome
Definition
A hyperimmunoglobulin syndrome that is characterized by eczema, distinct facial features, a tendency to experience bone fractures and recurrent bacterial infections of the skin and lungs.
Super Class
hyperimmunoglobulin syndrome
Disease Ontology
DOID:0080545
Mondo Disease Ontology
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
3570 IL6R interleukin 6 receptor
Displaying 1 entry
Gene ID Gene Symbol Description Source
16194 Il6ra interleukin 6 receptor, alpha

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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: December 9, 2024