DISEASE: Autoinflammation, panniculitis, and dermatosis syndrome
Entry
H02414 Disease
Name
Autoinflammation, panniculitis, and dermatosis syndrome
Description
Autoinflammation, panniculitis, and dermatosis syndrome (AIPDS) is an auto-inflammatory disease caused by loss-of-function mutations in OTULIN, encoding a deubiquitinase. Patients present with neonatal-onset fever, neutrophilic dermatitis/panniculitis, and failure to thrive, but without obvious primary immunodeficiency.
Category
Immune system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
04 Diseases of the immune system
Autoinflammatory disorders
4A60 Monogenic autoinflammatory syndromes
H02414 Autoinflammation, panniculitis, and dermatosis syndrome
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06516 TNF signaling
H02414 Autoinflammation, panniculitis, and dermatosis syndrome
Zhou Q, Yu X, Demirkaya E, Deuitch N, Stone D, Tsai WL, Kuehn HS, Wang H, Yang D, Park YH, Ombrello AK, Blake M, Romeo T, Remmers EF, Chae JJ, Mullikin JC, Guzel F, Milner JD, Boehm M, Rosenzweig SD, Gadina M, Welch SB, Ozen S, Topaloglu R, Abinun M, Kastner DL, Aksentijevich I
Title
Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease.
