A disease caused by weakened immunity leading to various 'virus' infections... What are the four main symptoms?

It's so, so terrible, wow wow wow.

[Is there such a disease in the world?]

A picture of warts on the hand caused by WHIM syndrome. / Photo = FDA

 

There are countless diseases in the world, and even unknown illnesses that have yet to be discovered. Some diseases are so rare that the number of patients worldwide is less than 100. Health Chosun publishes one article each week under the theme [Are There Such Diseases in the World?], introducing diseases that are hard to imagine, unbelievable but real. (Editor's note)

 

Most people develop immunity after being infected with a virus once. However, some individuals have issues with their immune system, leading to frequent infections from a young age and skin abnormalities in various parts of the body. We took a closer look at the unfamiliar name, 'WHIM Syndrome,' to learn more about it.

 

WHIM syndrome is a rare genetic disorder caused by the immune system not functioning properly. The name WHIM syndrome is derived from the initials of its main symptoms: Warts, Hypogammaglobulinemia, Infections, and Myelokathexis syndrome. Symptoms of WHIM syndrome vary greatly among patients. Some patients may show mild symptoms, while others may experience severe symptoms that threaten their lives.

 

Patients with WHIM syndrome experience recurrent bacterial infections during childhood, which are the initial symptoms. The frequency of infections varies from patient to patient. Infections can occur anywhere, and patients often experience recurrent otitis media, folliculitis, sinusitis, gingivitis, arthritis, and pneumonia.

 

Frequent infections can cause other symptoms as well. Patients who experience repeated ear infections may develop hearing loss. Recurrent pneumonia can lead to bronchiectasis. Bronchiectasis refers to a condition where the bronchial walls are irreversibly and permanently dilated. Bronchiectasis can cause a vicious cycle of ongoing pneumonia, which may result in pulmonary expansion failure (a condition where air cannot enter the lungs). Patients are exposed to frequent infections, increasing their risk of infection with human papillomavirus (HPV). Infection with HPV can cause warts to develop on the skin. Warts can be found from childhood. They can appear all over the body. In particular, patients often develop lesions on the hands, feet, face, and thighs, and these tend to recur immediately after treatment. Patients with WHIM syndrome often develop warts on the genitals or mucous membranes, which can sometimes lead to cancer, so caution is necessary.

A picture of warts on the foot caused by WHIM syndrome. / Photo = Our Dermatology Online

 

Patients with WHIM syndrome also experience eosinophilic myeloproliferative syndrome, which involves an excess of white blood cells in the bone marrow. The bone marrow is a soft tissue located inside the bones and is a hematopoietic organ that produces red blood cells, white blood cells, and platelets. Our bodies use five types of white blood cells to defend against infections or external antigens. These five include ▲neutrophils ▲eosinophils ▲basophils ▲monocytes ▲lymphocytes. In WHIM syndrome, eosinophils die in the bone marrow before being secreted into the blood vessels. Patients with WHIM syndrome also suffer from hypogammaglobulinemia, a deficiency of B lymphocytes, which are cells that produce antibodies among lymphocytes. B lymphocytes are necessary to fight bacterial and viral infections, so patients are more susceptible to bacterial and viral infections, creating a vicious cycle.

 

WHIM syndrome is known to be caused by mutations in the CXCR4 gene. The CXCR4 gene is important for producing chemokine receptors. Chemokines are proteins that play a crucial role in the immune system, primarily involved in directing immune cells such as white blood cells to specific locations. Some experts speculate that mutations in the CXCR4 gene lead to excessive involvement in immune cell activity, which in turn causes the immune system to collapse. However, the cause of the gene mutation has not been clarified.

 

WHIM syndrome treatment varies depending on the symptoms experienced by the patient. Since symptoms appear in various parts of the body, patients often undergo multidisciplinary consultations with pediatrics, hematology, dermatology, and other specialties. Some patients receive immunoglobulin injections. Immunoglobulin injections help regulate the immune system and are known to be effective in treating autoimmune diseases. Recently, a treatment for WHIM syndrome called Zolend (generic name: Maborisap) capsules has been introduced. The U.S. Food and Drug Administration (FDA) approved Zolend for use in patients aged 12 and older in April 2024. This new drug helps facilitate the smooth circulation of neutrophils and lymphocytes. However, Zolend can cause thrombocytopenia, rash, rhinitis (nasal congestion), nosebleeds, vomiting, and dizziness, and it poses a risk to the fetus. Women of reproductive age must confirm pregnancy status before starting treatment.

 

WHIM syndrome is a genetic disorder and there are no specific preventive measures. According to the National Organization for Rare Disorders (NORD) in the United States, approximately 180 cases have been reported to the medical community so far, making it a very rare disease. Since symptoms of WHIM syndrome typically begin in infancy or childhood, it is important to visit a hospital promptly for accurate diagnosis and treatment if abnormal symptoms are detected.

 

Reporter Lim Min-young imy@chosun.com