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WHIM syndrome; warts, hypogammaglobulinemia, infections, & myelokathexis
Pathology:
- immunodeficiency
Genetics:
- associated with defects in CXCR4
Clinical manifestations:
- extensive human papillomavirus (HPV) infection
- warts (image) [2]
Laboratory:
- complete blood count: neutropenia, lymphopenia
- serum protein electrophoresis: hypogammaglobulinemia
- bone marrow aspirates from affected individuals contain abundant mature myeloid cells (myelokathexis)
Complications:
- life-threatening bacterial infection
- HPV
Management:
- mavorixafor (Xolremdi)
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 193670
References
- OMIM :accession 193670
- Ingram I
FDA Approves First Drug for WHIM Syndrome
CXCR4 antagonist mavorixafor effectively boosts neutrophils and lymphocytes
to reduce infections.
https://www.medpagetoday.com/allergyimmunology/allergy/109871