Whim syndrome L98.8

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 02.04.2022

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Synonym(s)

WHIM syndromes

Definition
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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).

Etiopathogenesis
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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 features
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Increased infections, especially in the genital area due to infestation with human papilloma viruses (warts, condylomata acuminata, dysplasia of the cervical mucosa)

Literature
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  1. Gorlin RJ et al (2003) WHIM syndrome, an autosomal dominant disorder: clinical, hematological, and molecular studies. At J Med Genet 91: 368-376
  2. Gulino AV (2003) WHIM syndrome: a genetic disorder of leukocyte trafficking. Curr Opin Allergy Clin Immunol 3: 443-450
  3. 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

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Last updated on: 02.04.2022