Abbreviations
- AGS:
-
Aicardi-Goutières syndrome
- Blau syndrome:
-
See also PGA
- CAMPS:
-
CARD14-mediated psoriasis
- CANDLE:
-
Chronic atypical neutrophilic dermatitis with lipodystrophy and elevated temperatures
- CAPS:
-
Cryopyrin-associated periodic syndrome
- CINCA:
-
Chronic infantile neurologic, cutaneous, and articular syndrome
- DADA2:
-
Deficiency of adenosine deaminase 2
- DIRA:
-
Deficiency of interleukin-1 receptor antagonist
- DITRA:
-
Deficiency of interleukin-36 receptor antagonist
- FCAS:
-
Familial cold autoinflammatory syndrome
- FMF:
-
Familial Mediterranean fever
- HA20:
-
Haploinsufficiency of A20
- HIDS:
-
Hyperimmunoglobulinemia D and periodic fever syndrome
- MKD:
-
Mevalonate kinase deficiency
- MWS:
-
Muckle-Wells syndrome
- N4AID:
-
NLRC4-mediated autoinflammatory diseases
- NDAS:
-
NEMO-deleted exon 5 autoinflammatory syndrome
- NEMO:
-
NF-κB essential modulator
- NOMID:
-
Neonatal-onset multisystem inflammatory disease
- ORAS:
-
OTULIN-related autoinflammatory syndrome/otulipenia
- PAPA:
-
Pyogenic arthritis, pyoderma gangrenosum, and acne (syndrome)
- PGA:
-
Pediatric granulomatous arthritis
- PLAID:
-
PLCG2-associated antibody deficiency and immune dysregulation
- PRAAS:
-
Proteasome-associated autoinflammatory syndrome
- SAVI:
-
STING-associated vasculopathy with onset in infancy
- TRAPS:
-
TNF receptor-associated periodic syndrome
References
Broderick L, De Nardo D, Franklin BS, Hoffman HM, Latz E. The inflammasomes and autoinflammatory syndromes. Annu Rev Pathol. 2015;10:395–424.
Cox AJ, Ferguson PJ. Update on the genetics of nonbacterial osteomyelitis in humans. Curr Opin Rheumatol. 2018;30(5):521–5.
de Jesus AA, Canna SW, Liu Y, Goldbach-Mansky R. Molecular mechanisms in genetically defined autoinflammatory diseases: disorders of amplified danger signaling. Annu Rev Immunol. 2015;33:823–74.
Jesus AA, Goldbach-Mansky R. IL-1 blockade in autoinflammatory syndromes. Annu Rev Med. 2014;65:223–44.
Kim H, Sanchez GA, Goldbach-Mansky R. Insights from Mendelian Interferonopathies: comparison of CANDLE, SAVI with AGS monogenic lupus. J Mol Med (Berl). 2016;94(10):1111–27.
Manthiram K, Zhou Q, Aksentijevich I, Kastner DL. The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation. Nat Immunol. 2017;18(8):832–42.
McDermott MF, Aksentijevich I, Galon J, McDermott EM, Ogunkolade BW, Centola M, et al. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell. 1999;97(1):133–44.
Rodero MP, Crow YJ. Type I interferon-mediated monogenic autoinflammation: the type I interferonopathies. A conceptual overview. J Exp Med. 2016;213(12):2527–38.
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Goldbach-Mansky, R. (2018). Introduction to Autoinflammatory Diseases. In: MacKay, I., Rose, N. (eds) Encyclopedia of Medical Immunology. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-9209-2_116-1
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DOI: https://doi.org/10.1007/978-1-4614-9209-2_116-1
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