otulipenia (DOID:0080163)
Alliance: disease page
Synonyms: autoinflammation, panniculitis and dermatosis syndrome; otulin-related autoinflammatory syndrome
Alt IDs: OMIM:617099
Definition: An immune system disease that is characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy and has_material_basis_in autosomal recessive inheritance of homozygous loss-of-function mutations in the OTULIN gene encoding a deubiquitinase with linear linkage specificity on chromosome 5p15.