autosomal dominant autoinflammation, panniculitis, and dermatosis syndrome

An autoinflammation, panniculitis, and dermatosis syndrome characterized by the onset of autoinflammatory features in infancy, including fever, aseptic skin lesions, panniculitis, and poor wound healing that has_material_basis_in heterozygous dominant-negative

An autoinflammation, panniculitis, and dermatosis syndrome characterized by the onset of autoinflammatory features in infancy, including fever, aseptic skin lesions, panniculitis, and poor wound healing that has_material_basis_in heterozygous dominant-negative mutation in the OTULIN gene on chromosome 5p15.

Signs and symptoms

• Pustular rash
• Increased circulating interleukin 1beta concentration
• Erythema
• Neonatal omphalitis
• Increased total neutrophil count
• Increased total monocyte count
• Fever
• Panniculitis
• Hypotension
• Decreased circulating IgG concentration