Hyper-Immunoglobulin A in the Hyperimmunoglobulinemia D Syndrome

Hyper-immunoglobulin A in the hyperimmunoglobulinemia D syndrome.

The hyperimmunoglobulinemia D syndrome (HIDS) is an autosomal recessive disorder characterized by recurrent febrile attacks with abdominal, articular, and skin manifestations. Apart from elevated immunoglobulin D (IgD) levels (>100 IU/ml), there are high IgA levels in the majority of cases. Mutations in the gene encoding mevalonate kinase constitute the molecular defect in HIDS. The cause of el...

Cutaneous manifestations and histologic findings in the hyperimmunoglobulinemia D syndrome. International Hyper IgD Study Group.

BACKGROUND AND DESIGN The hyperimmunoglobulinemia D (hyper-IgD) syndrome is characterized by recurrent febrile attacks with abdominal distress, headache, and arthralgias. Physical examination reveals cervical lymphadenopathy in most cases and, sometimes, splenomegaly. Skin lesions have been observed in isolated cases during attacks. We summarize the features of skin lesions and the histopatholo...

A Case of Hyperimmunoglobulinemia D Syndrome Successfully Treated with Canakinumab

Hyperimmunoglobulinemia D syndrome is a rare autosomal recessive autoinflammatory disorder caused by mutations in the mevalonate kinase gene (MVK). In a proportion of patients, however, no MVK mutations are detected. Although various standard anti-inflammatory drugs have been tried, until now there is no consensus about how HIDS should be treated. We present a case of HIDS in an 8-year-old girl...

First patients with hyperimmunoglobulinemia D syndrome from the United States.

Neonatal Hepatitis as First Manifestation of Hyperimmunoglobulinemia D Syndrome

Hyper IgD syndrome (HIDS) is a rare metabolic autoinflammatory syndrome characterised by recurrent febrile episodes, accompanied by various inflammatory symptoms. We present a case of severe HIDS in a young girl, whose symptoms started in the neonatal period with hepatomegaly, hepatitis, thrombocytopenia, and conjugated hyperbilirubinemia. From the age of five months, the child had recurrent fe...