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Other Rare Monogenic Autoinflammatory Diseases

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Textbook of Autoinflammation

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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.

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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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Author information

Authors and Affiliations

  1. Department of Molecular Biology and Genetics, Saint-Antoine Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France

    Isabelle Jéru

  2. INSERM UMR_S938, Saint-Antoine Research Center, Institute of Cardiometabolism and Nutrition (ICAN), Sorbonne Université, Paris, France

    Isabelle Jéru

  3. RK Mellon Institute for Pediatric Research, Children’s Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA

    Scott W. Canna

  4. Pediatric Rheumatology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA

    Scott W. Canna

  5. Immunodeficiency and Inflammation Unit, Autoimmunity Branch, National Institutes of Arthritis, Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA

    Eric P. Hanson

Authors
  1. Isabelle Jéru
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  2. Scott W. Canna
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  3. Eric P. Hanson
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Corresponding author

Correspondence to Isabelle Jéru .

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Editors and Affiliations

  1. Pediatric Rheumatology Unit, Shaare Zedek Medical Center and Hebrew University, Jerusalem, Israel

    Philip J. Hashkes

  2. Department Paediatrics, Division of Rheumatology, The Hospital for Sick Children and University of Toronto, Toronto, ON, Canada

    Ronald M. Laxer

  3. Department of Internal Medicine, Radboudumc Expertisecenter for Immunodeficiency and Autoinflammation, Radboud University Medical Center, Nijmegen, The Netherlands

    Anna Simon

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Jéru, I., Canna, S.W., Hanson, E.P. (2019). Other Rare Monogenic Autoinflammatory Diseases. In: Hashkes, P., Laxer, R., Simon, A. (eds) Textbook of Autoinflammation. Springer, Cham. https://doi.org/10.1007/978-3-319-98605-0_29

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