Summary
WHIM syndrome is a rare primary immunodeficiency disorder, which is a 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 – (w)arts, (h)ypogammaglobulinemia, (i)nfections and (m)yelokathexis. Individuals with WHIM syndrome are more susceptible to potentially life-threatening bacterial infections. To a lesser extent, they are also predisposed to viral infections. Affected individuals are particularly susceptible to human papillomavirus (HPV), which can cause skin and genital warts and potentially lead to cancer. Affected individuals have extremely low levels of certain white blood cells (neutrophils) leading to a condition called neutropenia. In most patients, WHIM syndrome is caused by changes (variants) in the CXCR4 gene and inherited in an autosomal dominant pattern.
Introduction
Synonyms
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