Dr. Dharmagat Bhattarai has identified the primary genetic defect responsible for the rare immunological disorder ARPC1B deficiency in Nepal. This disease has been detected in 24 patients across the country, with five children having succumbed to the condition. A shortage of immunology specialists, lack of diagnostic facilities, and limited public awareness in Nepal pose significant challenges to accurate diagnosis and treatment. Immune disorders often manifest subtly and are misdiagnosed, especially in children with chronic diseases, adolescents, and adults with genetic problems. As a result, these patients frequently receive imprecise diagnoses and inappropriate medication, leading to organ failure and fatal outcomes. There remains an acute lack of public knowledge regarding these diseases in Nepal.
Dr. Dharmagat Bhattarai is Nepal’s only immunology specialist focusing on complex and chronic pediatric diseases from an immunological perspective. He has published research in over 60 international scientific journals and is globally recognized for his work on immuno-actinopathy disorders. Under his leadership, the research team discovered the key genetic defect causing the rare immunodeficiency disorder ARPC1B deficiency, confirming its origin in Nepalese populations. This study was published on July 16, 2025, in the prestigious journal Clinical Reviews in Allergy and Immunology. Worldwide, 64 patients have been identified with this condition, 24 of whom are from Nepal, including five children who have died.
Immunology is the science of immunity, which studies the body’s defense mechanisms against internal and external diseases. The immune system functions somewhat like a nation’s military, protecting the body against attacks from bacteria, viruses, and cancer cells. Immunology covers immune deficiencies, allergies, and infectious diseases. Statistically, one in every 250 to 1000 individuals experiences some form of immune deficiency or imbalance.
What is the status of immunological diseases in Nepal? After completing my doctorate in 2020 and returning to Nepal, I found that public awareness about immunological diseases was minimal. Through individual efforts, I have been raising awareness throughout all seven provinces and providing training in some medical colleges. A few pediatricians have also begun recognizing these diseases. Currently, Nepal has only about two dozen immunology specialists, and there has been a virtual absence of pediatric specialists in this field, resulting in many patients receiving incorrect treatments and incomplete diagnoses.
What is the cost and accessibility of immunology treatment in Nepal? Diagnosing immune deficiencies brings both relief and challenges because treatment is costly and complex. For example, managing ARPC1B deficiency requires daily and monthly medications that cost between NPR 15,000 to 20,000 per bottle in Nepal. Additional supplements and medicines like mycophenolate increase monthly expenses to NPR 40,000 to 50,000, which is beyond the reach of most Nepalese patients.
What steps should the government take to improve immunology services? The government could establish specialized rare disease and immunology research and treatment centers, similar to the Heart Disease Center. Expansion of bone marrow transplant services within Nepal is possible. However, these advances cannot be achieved by a single individual; medical educational institutions must adopt immunology as a faculty and introduce specialized training programs.
