WHIM syndrome

WHIM Syndrome (Warts, Hypogammaglobulinemia, Infections, and Myleokathexis) is a rare congenital immunodeficiency disorder characterized by chronic noncyclic neutropenia. Patients exhibit increased susceptibility to bacterial and viral infections, especially from common serotype human papilloma virus, resulting in warts on the hands and feet starting in childhood. Myelokathexis refers to retention (kathexis) of neutrophils in the bone marrow (myelo). In addition, lymphocytes and antibody levels (gammaglobulins) are often deficient.

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WHIMS results from autosomal dominant mutation in the gene for the chemokine receptor CXCR4, resulting in a carboxy-terminus truncation of the receptor of between ten and 19 residues. The gene mutant is located on 2q21. WHIMS is one of only a few diseases directly and primarily caused by an aberrant chemokine, making its molecular biology important in understanding the role of cell signaling and trafficking.

References

• WHIM SYNDROME] Online Mendelian Inheritance in Man , NIH database