Philip M. Murphy, MD, Chief, Molecular Signaling Section, Laboratory of Molecular Immunology; Chief, Laboratory of Molecular Immunology, National Institute of Allergy and Infection, provides an overview 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. Symptoms usually begin in early childhood with recurrent bacterial infections such as respiratory infections and cellulitis. In later childhood, individuals develop widespread warts that often become persistent despite treatments that are normally effective. Warts that involve the genital area may eventually cause cancer. It is caused by mutations in the CXCR4 gene and is inherited in an autosomal dominant manner.
For more information on WHIM syndrome, visit the WHIM Syndrome Learning Center.