Hyperimmunoglobulin D Syndrome: Case Report

Hacer ŞEN1, Fatma SILAN2, Emine BİNNETOĞLU1, Fahri GÜNEŞ1, Çisem AKURUT2, Ahmet ULUDAĞ2, Öztürk ÖZDEMİR2

1Department of Internal Medicine, Çanakkale Onsekiz Mart University, Çanakkale, Turkey
2Department of Medical Genetics, Çanakkale Onsekiz Mart University, Çanakkale, Turkey

Keywords: Hereditary autoinflammatory disease, hyperimmunoglobulin D syndrome, mevalonate kinase mutation

Abstract

Hyperimmunoglobulin D syndrome is a rare autosomal recessive inherited disease characterized by fever attacks, which may be accompanied by chills, headache, abdominal pain, and cervical lymphadenopathy. Typical hyperimmunoglobulin D syndrome patients start to show symptoms in the first years of life. Diagnosis is based on the presence of symptoms with reduction in the enzyme activity of mevalonate kinase or by detecting the mutation in the mevalonate kinase gene that causes the disease. In this article, we present a 21-year-old female patient who started having fever attacks in early childhood and was diagnosed with familial Mediterranean fever; however, in spite of treatment, whose complaints did not resolve. The genetic analysis, which detected homozygote mevalonate kinase gene mutation and resulted in the hyperimmunoglobulin D syndrome diagnosis, is presented with an accompanying discussion of the literature.

Conflict of Interest

The authors declared no conflicts of interest with respect to the authorship and/or publication of this article.

Financial Disclosure

The authors received no financial support for the research and/or authorship of this article.