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 [BR:br08402]
Immune system diseases
  Allergies and autoimmune diseases
   H02414  Autoinflammation, panniculitis, and dermatosis syndrome
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

Gene

OTULIN [HSA:90268] [KO:K18343]

Other DBs

ICD-11:

4A60.Y

OMIM:

617099

Reference

PMID:27523608

Authors

Damgaard RB, Walker JA, Marco-Casanova P, Morgan NV, Titheradge HL, Elliott PR, McHale D, Maher ER, McKenzie ANJ, Komander D

Title

The Deubiquitinase OTULIN Is an Essential Negative Regulator of Inflammation and Autoimmunity.

Journal

Cell 166:1215-1230.e20 (2016)
DOI:10.1016/j.cell.2016.07.019

Reference

PMID:27559085

Authors

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.

Journal

Proc Natl Acad Sci U S A 113:10127-32 (2016)
DOI:10.1073/pnas.1612594113

» Japanese version

All links

Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (2)   
   PubMed (2)   
All databases (5)   

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