Sarah Cohen, MD, Medical Director Rare Diseases, X4 Pharmaceuticals, discusses WHIM syndrome and clinical trials.
WHIM syndrome is a rare, congenital primary immunodeficiency disorder associated with severe neutropenia that affects all ages. However, due to the heterogeneous presentation of the disease, coupled with lack of awareness of the condition, the diagnosis may be delayed, sometimes even into adulthood. The acronym “WHIM” stands for (W)arts, (H)ypogammaglobulinemia, (I)nfections, and (M)yelokathexis. Myelokathexis refers to an abnormal retention of white blood cells, in the bone marrow, that causes a reduction of immune fighting white blood cells, and most notably the reduction of neutrophils and lymphocytes. Importantly, the acronym WHIM can be misleading because most patients will NOT present with all the symptoms associated with the four letters of the term (W.H.I. or M.), and therefore the diagnosis of the disease may be delayed, or misdiagnosed and, consequently, underdiagnosed. Disease understanding and awareness is improving as is the discovery and development of novel treatment approaches (see Novel Treatments on the horizon). Visit the CheckRare WHIM Syndrome Learning Center for a complete overview of WHIM syndrome.