Jolan Walter, PhD, MD, Division Chief of Pediatric Allergy and Immunology at the University of South Florida, discusses genetic testing for WHIM syndrome.
WHIM syndrome is an acronym for a rare immunodeficiency disorder: Each letter represents a predominant feature of the condition: warts, hypogammaglobulinemia, infections, and myelokathexis. Symptoms usually begin in early childhood with recurrent bacterial infections such as respiratory infections and cellulitis. It is caused by genetic changes in the CXCR4 gene.
When conducting genetic testing, the interpretation of results is extremely important in making accurate diagnoses. For WHIM syndrome in particular, physicians are looking for genetic changes in the CXCR4 gene. However, sometimes these panels can come back with variants of uncertain significance and more analysis has to be done to determine whether a gene is pathogenic or benign. Validation of the variant poses additional challenges since these practices are not currently available clinically, and patients must go to centers of excellence for further research.
In WHIM syndrome, further evaluation of a patient’s clinical features can be beneficial. This can include looking into signs of myelokathexis through a bone marrow biopsy, warts, history of frequent infection, and neutropenia. Proper diagnosis is especially important in this condition, where FDA approved targeted therapies exist.
As Dr. Walter explains, genetic testing has become standard practice in the diagnosis of many rare diseases, with patients now having easier access to diagnostic tools such as panel sequencing. Many medical societies and consortiums are working to further reduce access barriers to genetic testing. Dr. Walter mentions that the Jeffrey Modell Foundation, the Clinical Immunology Society, and the North American Immuno-Hematology Clinical Education & Research Consortium (NICER) have been instrumental in spreading awareness of WHIM syndrome and its diagnostic process.
To learn more about WHIM syndrome and other rare autoimmune disorders, visit https://checkrare.com/diseases/autoimmune-and-auto-inflammatory-disorders/