hyper IgE recurrent infection syndrome 2

Summary
Definition
A hyper IgE syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK8 gene on chromosome 9p24.
Super Class
autosomal recessive disease hyper IgE syndrome
Disease Ontology
DOID:0080594
Mondo Disease Ontology
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
81704 DOCK8 dedicator of cytokinesis 8

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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