otulipenia

Term ID

DOID:0080163

Synonyms

• autoinflammation, panniculitis and dermatosis syndrome
• otulin-related autoinflammatory syndrome

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. (4)

References

• GARD:13198
• OMIM:617099

Ontology

Human Disease   ( DOID:0080163 )