WHIM syndrome is a rare, inherited, combined immunodeficiency disease caused by reduced mobilization and trafficking of white blood cells from the bone marrow due to over-signaling of the CXCR4/CXCL12 pathway. WHIM syndrome is named for its four common clinical findings. The diagnostic challenges arise because not all symptoms are required for a diagnosis and all of them do not appear at the same time. Patients have deficient blood levels of neutrophils (neutropenia) and lymphocytes (lymphopenia), which results in frequent, recurrent infections. Affected individuals are particularly susceptible to human papillomavirus (HPV), which can cause skin and genital warts and potentially lead to certain types of cancer. Our program goal is to identify risk factors associated with WHIM syndrome, focusing on making an earlier diagnosis that can impact long-term outcomes, timely treatment options and ultimately improved quality of life for patients.
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