Synonym(s)
WHIM syndromes
DefinitionThis section has been translated automatically.
Acronym for warts, hypogammaglobulinemia, infections and myelokathexis (OMIM 193670). The clinical picture is characterized by peripheral neutropenia with hypercellular bone marrow, oversegmented, vacuolated granulocytes (so-called myelokathexis), and a decrease in immunoglobulin levels (hypogammaglobulinemia).
EtiopathogenesisThis section has been translated automatically.
mutations in the gene of the chemokine receptor CXCR4. The ligand of this receptor is the chemokine SDF-1 (stromal cell-derived factor-1), which is important for granulopesis.
Clinical featuresThis section has been translated automatically.
Increased infections, especially in the genital area due to infestation with human papilloma viruses (warts, condylomata acuminata, dysplasia of the cervical mucosa)
LiteratureThis section has been translated automatically.
- Gorlin RJ et al (2003) WHIM syndrome, an autosomal dominant disorder: clinical, hematological, and molecular studies. At J Med Genet 91: 368-376
- Gulino AV (2003) WHIM syndrome: a genetic disorder of leukocyte trafficking. Curr Opin Allergy Clin Immunol 3: 443-450
- Hernandez PA et al (2003) Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease. Nat Genet 34: 70-74
Recommended articles
Incoming links (4)
Agammaglobulinemia (Review) ; Neutropenia; PID; Primary immunodeficiencies and skin;Disclaimer
Please ask your physician for a reliable diagnosis. This website is only meant as a reference.
Prof. Dr. med. Peter Altmeyer