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Other Rare Monogenic Autoinflammatory Diseases

  • Isabelle JéruEmail author
  • Scott W. Canna
  • Eric P. Hanson
Chapter

Abstract

Over the past decade, major advances have been m`ade in understanding the molecular and cellular bases leading to autoinflammatory diseases, and a number of very rare entities have been described. Next-generation sequencing technologies led to the rapid identification of a number of additional genes responsible for syndromes observed in only a very small number of families or in sporadic cases. The identification of all these new genes and associated molecular pathways underlines that activation of interleukin (IL)-1β signaling is far from being the only pathogenic process involved in autoinflammatory disorders. Genetic defects found in patients with rare monogenic autoinflammatory diseases might also facilitate the study of common autoinflammatory diseases with a genetic component. Since these disorders affect multiple organs with potentially severe complications, management of patients is complex and warrants a multidisciplinary approach. Finally, it is necessary to translate discoveries of the pathophysiology of these conditions into more effective therapies, since the choice of therapeutic options often remains empirical.

Keywords

NLRP12: NOD-like receptor family pyrin domain containing 12 NLRP1: NOD-like receptor family pyrin domain containing 1 PAAND: Pyrin-associated autoinflammation with neutrophilic dermatosis TNFRSF11A: Tumor necrosis factor receptor superfamily member 11a NLRC4: NOD-like receptor family CARD domain containing 4 NEMO-△CT: NEMO deleted C-terminus Otulin HA20: A20 haploinsufficiency 

Abbreviations

ALPS

Autoimmune lymphoproliferative syndrome

ASC

Apoptosis-associated speck-like protein containing a CARD

CAPS

Cryopyrin-associated periodic syndrome

CARD

C-terminal caspase activation and recruitment domain

CNS

Central nervous system

CRP

C-reactive protein

CYLD

Cylindromatosis

DAMP

Danger-associated molecular pattern

DMARDs

Disease-modifying anti-rheumatic drugs

DUB

Deubiquitinating enzymes

EDA-ID

Ectodermal dysplasia with anhydrosis with immunodeficiency

ESR

Erythrocyte sedimentation rate

FCAS

Familial cold autoinflammatory syndrome

FIIND

Function-to-find domain

FKLC

Familial keratosis lichenoides chronica

FMF

Familial Mediterranean fever

GSDMD

Gasdermin D

GVHD

Graft versus host disease

HA20

Haploinsufficiency of A20

HLH

Hemophagocytic lymphohistiocytosis

IBD

Inflammatory bowel disease

IFN

Interferon

IKK

IκB kinase

IL

Interleukin

IL-1Ra

IL-1 receptor antagonist

KGF

Keratinocyte growth factor

LRR

Leucine-rich repeat

LUBAC

Linear ubiquitin assembly chain complex

MAS

Macrophage activation syndrome

MSPC

Multiple self-healing palmoplantar carcinoma

NAIAD

NLRP1-associated autoinflammation with arthritis and dyskeratosis

NBS

Nucleotide binding site

NEMO

NF-κB essential modulator

NF-κB

Nuclear factor kappa B

NLR

NOD-like receptor

NLRC4

NOD-like receptor family CARD domain containing 4

NLRP1

NOD-like receptor family pyrin domain containing 1

NLRP12

NOD-like receptor family pyrin domain containing 12

NLRP12AD

NLRP12-associated disorder

NOD

Nucleotide-binding oligomerization domain

ORAS

Otulin-related autoinflammatory syndrome

PAAND

Pyrin-associated autoinflammation with neutrophilic dermatosis

PAMP

Pathogen-associated molecular pattern

PAPA

Pyogenic arthritis, pyoderma gangrenosum, acne

PBMC

Peripheral blood mononuclear cell

PSTPIP

Proline-serine-threonine phosphatase interacting protein

PYD

Pyrin domain

RIG

Retinoic acid-inducible gene

RIP

Receptor interacting protein 1

RLR

RIG-I-like receptor

RNP

Ribonuclear protein

SCC

Squamous cell carcinoma

TANK

TRAF associated NFκB activator

TLR

Toll-like receptor

TNF

Tumor necrosis factor

TNFR

Tumor necrosis factor receptor

TNFRSF11A

Tumor necrosis factor receptor superfamily member 11a

TRAF

Tumor necrosis factor receptor-associated factors

TRAPS

Tumor necrosis factor receptor-associated periodic syndrome

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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • Isabelle Jéru
    • 1
    • 2
    Email author
  • Scott W. Canna
    • 3
    • 4
  • Eric P. Hanson
    • 5
  1. 1.Department of Molecular Biology and GeneticsSaint-Antoine Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP)ParisFrance
  2. 2.INSERM UMR_S938, Saint-Antoine Research CenterInstitute of Cardiometabolism and Nutrition (ICAN), Sorbonne UniversitéParisFrance
  3. 3.RK Mellon Institute for Pediatric Research, Children’s Hospital of Pittsburgh of UPMCPittsburghUSA
  4. 4.Pediatric RheumatologyUniversity of Pittsburgh School of MedicinePittsburghUSA
  5. 5.Immunodeficiency and Inflammation Unit, Autoimmunity BranchNational Institutes of Arthritis, Musculoskeletal and Skin Diseases, National Institutes of HealthBethesdaUSA

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