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MIRAGE
hyper IgE recurrent infection syndrome 4

Summary
Definition
A hyper IgE syndrome that has_material_basis_in homozygous mutation in the IL6ST gene on chromosome 5q11.
Super Class
autosomal recessive disease hyper IgE syndrome
Disease Ontology
DOID:0080596
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
3572 IL6ST interleukin 6 cytokine family signal transducer
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P40189 Interleukin-6 receptor subunit beta
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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: April 7, 2025