WHIM syndrome is a clinically variable disorder with a spectrum of features that give it its name: Warts, Hypogammaglobulinemia (low immunoglobulin levels), Immunodeficiency (susceptibility to infections), Myelokathexis (trapping of white blood cells in the bone marrow). The disease may present at different ages with distinct complications observed in individual patients. The most common ways patients come to medical attention are as a result of repeated bacterial infections or as a result of extensive infection with human papilloma virus (HPV), which causes dermal and genital warts.
Although the incidence is unknown, the disease is very rare. The clinical onset usually occurs during early childhood with recurrent bacterial infections. Later in life most of the patients develop widespread and recalcitrant warts with common HPV serotypes. Treatment consists on monthly injections of Intravenous Immunoglobulin, which may reduce the incidence of infectious episodes.
Severely affected patients are likely to be referred for immunological evaluation during early childhood for recurrent bacterial infections and low white blood cell counts (neutropenia). The bacterial infections seen in WHIM syndrome patients are caused by common organisms and can involve superficial or deep tissues. The most frequent sites of infection are the middle ear, sinuses, and gums but more serious infections can also occur in the lungs (pneumonia), skin (cellulitis), or bones and joints. Fortunately, white blood cells from the bone marrow are released during infections, permitting patients to respond to antibiotic therapy.
In some less severely affected patients, the main clinical problem may be an unusual susceptibility to infection with HPV. The onset of HPV infection ranges from early childhood to late adolescence though in a subset of patients, warts were reported. Warts can occur on any part of the body and cervical warts can be severe, requiring surgical resection. Unfortunately, treatment of warts associated with WHIM syndrome has proven to be difficult, with poor response to standard therapies.
More information:
- Learn about genetic testing for WHIM Syndrome on the GDF’s Know Your Genes website
