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Autoinflammatory Disease

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Rheumatology for Primary Care Providers

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Abstract

Autoinflammatory diseases are a heterogeneous group of disorders characterized by abnormal activation of the innate immune system. They are an entity distinct from autoimmune disease and primary immunodeficiency disease, but at times patients may have overlapping immunologic and clinical features. They include monogenic and polygenic disorders, and molecular genetics can aid in making the diagnosis. This chapter will focus on the pathophysiology, clinical phenotype, diagnosis, and treatment of hereditary periodic fever syndromes and NOD2-associated diseases.

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Abbreviations

AID:

Autoinflammatory disease

CANDLE:

Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature

CAPS:

Cryopyrin-associated periodic fever syndrome

CINCA:

Chronic infantile neurologic cutaneous articular syndrome

DADA2:

Adenosine deaminase 2 deficiency

DAMPs:

Damage-associated molecular patterns

DIRA:

Deficiency of the interleukin-1 receptor antagonist

FMF:

Familial Mediterranean fever

HIDS:

Hyper-IgD with periodic fever syndrome

MVK:

Mevalonate kinase deficiency

NLR:

NOD-like receptor proteins

NLRs:

NOD-like receptors

NOD:

Nucleotide-binding oligomerization domain

NOD2:

Nucleotide-binding oligomerization domain-containing protein 2

NOMID:

Neonatal-onset multisystem inflammatory disease

PAMPs:

Pathogen-associated molecular patterns

PFAPA:

Periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis

PLAID:

PLCG2-associated antibody deficiency and immune dysregulation

PRRs:

Pattern recognition receptors

SAVI:

STING-associated vasculopathy with onset in infancy

SIFD:

Sideroblastic anemia, immunodeficiency, fevers, and developmental delay

TLR:

Toll-like receptors

TRAPS:

TNF receptor-associated periodic syndrome

YAOS:

Yao syndrome

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Author information

Authors and Affiliations

  1. Division of Rheumatology, Allergy and Immunology, Department of Medicine, Stony Brook University Renaissance School of Medicine, Stony Brook, NY, USA

    Brianne Navetta-Modrov, Apostolos Kontzias & Qingping Yao

Authors
  1. Brianne Navetta-Modrov
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  2. Apostolos Kontzias
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  3. Qingping Yao
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Corresponding author

Correspondence to Qingping Yao .

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Editors and Affiliations

  1. Mount Sinai Hospital, New York, NY, USA

    Yousaf Ali

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Navetta-Modrov, B., Kontzias, A., Yao, Q. (2022). Autoinflammatory Disease. In: Ali, Y. (eds) Rheumatology for Primary Care Providers. Springer, Cham. https://doi.org/10.1007/978-3-030-80699-6_12

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  • DOI: https://doi.org/10.1007/978-3-030-80699-6_12

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