WHIM syndrome 2

Summary
Synonym
  • WARTS, HYPOGAMMAGLOBULINEMIA, INFECTIONS, AND MYELOKATHEXIS SYNDROME 2
Definition
An immunodeficiency disease that is characterized by chronic neutropenia and myelokathexis, which is impaired neutrophil mobilization from the bone marrow and that has_material_basis_in homozygous mutation in the CXCR2 gene on chromosome 2q35.
Super Class
autosomal recessive disease primary immunodeficiency disease
Disease Ontology
DOID:0060973
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
3579 CXCR2 C-X-C motif chemokine receptor 2
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P25025 C-X-C chemokine receptor type 2

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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

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