Sarah Cohen, MD, Medical Director Rare Diseases, X4 Pharmaceuticals, discusses gene testing and WHIM syndrome.

WHIM syndrome is a rare, congenital primary immune disorder 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 Warts, Hypogammaglobulinemia, Infections, and Myelokathexis. Myelokathexis refers to an abnormal retention of white blood cells in the patient’s bone marrow that causes a reduction of circulating white blood cells in particular reduction of neutrophils and lymphocytes. Importantly, the acronym WHIM can be misleading because most patients will NOT present with all four letters of the acronym (W.H.I. or M.), and therefore the disease is often misdiagnosed.

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