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agammaglobulinemia 9

Summary
Definition
An agammaglobulinemia that is characterized by recurrent bacterial infections associated with agammaglobulinemia and absence of circulating B cells and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC39A7 gene on chromosome 6p21.
Super Class
agammaglobulinemia autosomal recessive disease
Disease Ontology
DOID:0081141
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
7922 SLC39A7 solute carrier family 39 member 7
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q92504 Zinc transporter SLC39A7
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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 6, 2026