WHIM syndrome
MeSH: C536697ORPHA: 516361 Treatment Available
Overview
immunodeficiency disease characterized by neutropenia, hypogammaglobulinemia, and extensive human papillomavirus (HPV) infection. It has material basis in heterozygous mutation in the CXCR4 gene on chromosome 2q22
Available Treatments (1)
| Drug | Form | Status | Countries | Lead Time |
|---|---|---|---|---|
| mavorixafor Orphan | Oral capsule | FDA Approved | 1 | — |
Clinical Presentation
Signs and symptoms associated with WHIM syndrome, sourced from HPO and Orphanet clinical annotations.
Decreased total neutrophil countDecreased total lymphocyte countAbnormal neutrophil morphologyBone marrow hypercellularityMyelokathexisPneumoniaRecurrent bacterial infectionsRecurrent upper respiratory tract infectionsDecreased circulating immunoglobulin concentrationRecurrent pneumoniaRespiratory tract infectionPapillomaVerrucaeSinusitisOtitis mediaTetralogy of FallotLimb ataxiaBronchiectasisAbnormal speech patternPostural instabilityAbnormal small intestine morphologyPoor fine motor coordinationPharyngitisCervix cancerSevere periodontitisVitiligoSeizureMeningitisLymphadenitisParotitisCutaneous melanomaCellulitisAtelectasisSepsis
Classification & Codes
MeSH Code
C536697Orphanet Code
ORPHA:51636WHIM syndrome
| MeSH | C536697 |
| Orphanet | ORPHA:51636 |
| Treatments | 1 drug(s) |
| Symptoms on record | 34 signs |
| Status | published |
Treatment Summary
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO