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WHIM syndrome
Summary
- Synonym
-
- WHIMS
- warts, hypogammaglobulinemia, infections, and myelokathexis
- warts-hypogammaglobulinemia-infections-myelokathexis syndrome
- Definition
- An immunodeficiency disease that is characterized by neutropenia, hypogammaglobulinemia, and extensive human papillomavirus infection and that has_material_basis_in heterozygous mutation in the CXCR4 gene on chromosome 2q22.
- Super Class
- autosomal dominant disease primary immunodeficiency disease
External Links
- Disease Ontology
- DOID:0060591
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 380373 | cxcr4.S | C-X-C motif chemokine receptor 4 S homeolog | Xenopus laevis (African clawed frog) | |
| 100038176 | cxcr4 | C-X-C motif chemokine receptor 4 | Xenopus tropicalis (tropical clawed frog) | |
| 100192360 | cxcr4.L | C-X-C motif chemokine receptor 4 L homeolog | Xenopus laevis (African clawed frog) |
