Kirsty and Tony discuss living with WHIM syndrome, a rare, congenital primary immune disorder.

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.

Listen to “CheckRare: Diagnosing WHIM Syndrome” on Spreaker.