Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
immunodeficiency
rare disease |
| gptkbp:abbreviation |
Warts, Hypogammaglobulinemia, Infections, Myelokathexis syndrome
|
| gptkbp:affects |
immune system
|
| gptkbp:complication |
recurrent bacterial infections
chronic neutropenia |
| gptkbp:firstDescribed |
1964
|
| gptkbp:frequency |
very rare
|
| gptkbp:hasGeneticCause |
mutation in CXCR4 gene
|
| gptkbp:hasOrphanetID |
gptkb:ORPHA:324
|
| https://www.w3.org/2000/01/rdf-schema#label |
WHIM syndrome
|
| gptkbp:ICD-10_code |
D80.8
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
193670
|
| gptkbp:symptom |
infections
warts hypogammaglobulinemia myelokathexis |
| gptkbp:treatment |
gptkb:plerixafor
immunoglobulin replacement therapy G-CSF |
| gptkbp:bfsParent |
gptkb:mavorixafor
gptkb:CXCR4 |
| gptkbp:bfsLayer |
7
|