autosomal recessive autoinflammation, panniculitis, and dermatosis syndrome

An autoinflammation, panniculitis, and dermatosis syndrome characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy and has_material_basis_in homozygous or compound heterozygous loss-of-funct

An autoinflammation, panniculitis, and dermatosis syndrome characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy and has_material_basis_in homozygous or compound heterozygous loss-of-function mutation in the OTULIN gene on chromosome 5p15.

Signs and symptoms

• Diarrhea
• Joint swelling
• Increased total CD4+ T cell proportion
• Failure to thrive in infancy
• Increased circulating IgM concentration
• Increased circulating IgA concentration
• Increased total neutrophil count
• Elevated circulating C-reactive protein concentration
• Arthralgia
• Lipodystrophy

Also known as: ORAS; OTULIN-related autoinflammatory syndrome; otulipenia