A New Study Aims to Improve Diagnoses for People with WHIM Syndrome

A large clinical study will be carried out to develop a protocol for identifying a rare primary immunodeficiency disease called WHIM syndrome in patients, reports BioPortfolio.
The Jeffrey Modell Foundation, a charity dedicated to primary immunodeficiency disease, and X4 Pharmaceuticals, a biotechnology company working on treatments for WHIM, are jointly funding the study, which will genetically screen up to 300 people.
WHIM syndrome is a rare primary immunodeficiency disorder that disrupts the immune system.

The name stands for the main symptoms of the disease: warts, hypogammaglobulinemia (a reduction in proteins called gamma globulins that include antibodies), infections, and myelokathexis (white blood cell disorder). Those affected by the disease experience frequent and often serious infections. The infections can occur in a range of areas including gums, bones, under the skin and in tissues, in the urinary tract, and sometimes also in membranes covering the brain. In addition to this, people may experience associated symptoms as a result of chronic infection. These depend on the location of the infection; for example, chronic ear infections can lead to hearing loss, while frequent dental infections might result in tooth loss. Most people with the disease first start to exhibit symptoms in early childhood. It is estimated that approximately one in five million children are born with the disease, although precise figures remain unknown due to the difficulties in identifying and diagnosing it.

The upcoming clinical study will genetically screen up to 300 people for WHIM syndrome. Looking at a person’s CXCR4 genes can help to identify the disease. People who have WHIM have a mutation in these genes that prevent the C-X-C chemokine receptor type 4 from being properly produced. This underlies the symptoms seen in the condition. This study is expected to be the largest carried out on WHIM syndrome so far.

Its purpose will be to develop a standard protocol for testing for the syndrome by combining both its genetic and clinical features. Currently, it is very difficult to reach a diagnosis of WHIM because patients often see doctors from a range of different medical departments who may be unfamiliar with how to identify the rare condition, and often they are diagnosed with an unknown primary immunodeficiency disease, rather than their specific syndrome. It is likely that WHIM is actually much more common than currently thought.

By improving the standard methods to identify WHIM patients should be diagnosed sooner, and this may lead to a better prognosis as symptoms are addressed earlier on. Early and aggressive treatment of the condition is crucial for managing WHIM syndrome and avoiding the long-term effects of chronic infection.

Anna Hewitt

Anna Hewitt

Anna is from England and recently finished her undergraduate degree. She has an interest in medicine and enjoys writing. In her spare time she likes to cook, hike, and hang out with cats.

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