article · Journal of Medical Case Reports
Hyperimmunoglobulin D syndrome is a rare autosomal recessive autoinflammatory disorder caused by a deficiency in the mevalonate kinase enzyme. The condition typically presents in infancy with recurrent febrile attacks, and management largely focuses on supportive care, though targeted therapies such as anakinra and canakinumab have shown success. A case study describes a three-month-old girl in Tanzania who suffered from recurrent fever, sepsis, and anaemia from her first week of life. Her symptoms also included arthritis, generalized lymphadenopathy, urticaria, dermatitis, and failure to thrive. Following multiple hospital admissions, primary immunodeficiency was suspected. Genetic testing confirmed two heterozygous-like pathogenic variants in the mevalonate kinase gene. The findings demonstrate the value of considering primary immunodeficiencies and utilising genetic testing to reach an accurate diagnosis when managing infants with recurrent febrile episodes in low-resource environments.
Rare genetic autoinflammatory conditions can be difficult to recognise because their symptoms often mimic common infections. Demonstrating that genetic testing can successfully identify primary immunodeficiencies in low-resource clinical settings helps healthcare providers make accurate diagnoses. Early, correct identification enables clinicians to avoid unnecessary repeated treatments for suspected infections and directs patients towards appropriate supportive care and targeted therapies.
The abstract does not indicate a direct commercial application pathway, as it focuses on clinical diagnostic awareness and genetic confirmation in a single patient. However, it indicates potential demand for accessible, cost-effective genetic diagnostic services and targeted biopharmaceuticals, such as anakinra and canakinumab, among healthcare providers treating rare autoinflammatory conditions in low-resource healthcare systems.
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BACKGROUND: Hyperimmunoglobulin D syndrome is a rare autosomal recessive autoinflammatory syndrome caused by mevalonate kinase enzyme deficiency. It is characterized by recurrent febrile attacks beginning in the first year of life. Treatment is mainly supportive, and there are successful reports of trials of novel therapies such as anakinra and canakinumab. CASE PRESENTATION: We present a case of a 3-month-old girl from Tanzania, East Africa, who experienced recurrent febrile attacks, sepsis, and anemia since her first week of life. She also exhibited arthritis, generalized lymphadenopathy, urticaria, dermatitis, and failure to thrive. After multiple hospital admissions for similar symptoms, a diagnosis of primary immunodeficiency was considered and genetic testing revealed two heterozygous-like pathogenic variants in the mevalonate kinase gene. CONCLUSION: This case highlights the importance of clinicians in low-resource settings to have a high index of suspicion for primary immunodeficiencies when managing patients with recurrent febrile infections and to consider genetic studies for accurate diagnosis.
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DOI: 10.1186/s13256-025-05637-w
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