Philip M. Murphy, MD, Chief, Molecular Signaling Section, Laboratory of Molecular Immunology; Chief, Laboratory of Molecular Immunology, National Institute of Allergy and Infection, discusses the etiology and diagnosis of WHIM syndrome, a rare immunodeficiency disorder.

WHIM is a rare disorder in which the body’s immune system does not function properly. WHIM is an acronym for some of the characteristic symptoms of the disorder – Warts, Hypogammaglobulinemia, Infections, and Myelokathexis.

People with WHIM often have a low number of white blood cells in their body, which may make it more difficult for them to fight off infection. They may get infections in the ear, skin, lungs, joints, mouth, bones, and urinary tract. They also may be more likely to get warts associated with human papilloma virus (HPV). Some of these symptoms may be life threatening.

Not every person with WHIM has all of these signs and symptoms at the same time because of the variability of the disease. There can also be variability in the onset and timing of each symptom.

A diagnosis of WHIM is based upon identification of characteristic symptoms, a detailed medical history, a thorough clinical evaluation and a variety of specialized tests including genetic testing. There are genetic tests available that can help confirm or eliminate a diagnosis of WHIM syndrome.

For more information on WHIM syndrome, visit the WHIM Syndrome Learning Center.