Novel mutations causing hyperimmunoglobulin D and periodic fever syndrome

Area of Science:

• Genetics
• Immunology
• Biochemistry

Background:

• Hyperimmunoglobulin D and periodic fever syndrome (HIDS) is a rare autoinflammatory disorder.
• It is characterized by recurrent episodes of inflammation.
• HIDS is caused by mutations in the mevalonate kinase (MVK) gene.

Observation:

• A 9-year-old boy diagnosed with HIDS presented with symptoms.
• He had two novel mutations in the MVK gene: c.62C>T (p.Ala21Val) and c.372-6T>C (probable splicing defect).
• His symptoms were unresponsive to steroids and NSAIDs.

Findings:

• The pathogenicity of the novel MVK mutations was confirmed by low MVK enzyme activity in patient fibroblasts.
• The identified mutations expand the genetic and ethnic spectrum of HIDS.
• This case highlights a rare genetic variant of HIDS.

Implications:

• This case expands the known genetic variations associated with HIDS.
• Understanding novel mutations aids in accurate diagnosis and genetic counseling.
• Further research into MVK gene mutations can improve HIDS management strategies.