David Dale, MD at the University of Washington Medical Center in Seattle discusses his paper (Family studies of warts, hypogammaglobulinemia, immunodeficiency, myelokathexis syndrome) published in Current Opinion in Hematology (January 2020 – Volume 27 – Issue 1).

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.

In the paper, Dr. Dale states that although warts, cellulitis and respiratory infections are common in patients with WHIM syndrome, less commonly these patients have congenital heart disease, human papilloma virus-associated malignancies (cervical and vulvular) and lymphomas. Hearing loss because of recurrent otitis media is another important complication.

WHIM syndrome has diverse manifestations; some features occur consistently in almost all patients, for example, neutropenia, lymphocytopenia and mild hypogammaglobulinemia. However, the clinical consequences are quite variable across patient cohorts and within families. Each complication is important as a cause for morbidity and a source for patient and family concerns.

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

 

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