KEGG   DISEASE: Autoinflammation with episodic fever and lymphadenopathy
Entry
H02620                      Disease                                
Name
Autoinflammation with episodic fever and lymphadenopathy;
Cleavage-resistant RIPK1-induced autoinflammatory syndrome
Description
Autoinflammation with episodic fever and lymphadenopathy (AIEFL) is an autoinflammatory disease caused by non-cleavable RIPK1 variants. Heterozygous mutations of the RIPK1 caspase-8 cleavage site have been found to cause early-onset periodic fever episodes and severe intermittent lymphadenopathy.
Category
Immune system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 04 Diseases of the immune system
  Primary immunodeficiencies
   4A00  Primary immunodeficiencies due to disorders of innate immunity
    H02620  Autoinflammation with episodic fever and lymphadenopathy
Pathway-based classification of diseases [BR:br08402]
 Signal transduction
  nt06516  TNF signaling
   H02620  Autoinflammation with episodic fever and lymphadenopathy
 Cellular process
  nt06527  Necroptosis
   H02620  Autoinflammation with episodic fever and lymphadenopathy
Pathway
hsa04668  TNF signaling pathway
hsa04210  Apoptosis
hsa04217  Necroptosis
Network
nt06516 TNF signaling
nt06527 Necroptosis
Gene
RIPK1 [HSA:8737] [KO:K02861]
Other DBs
ICD-11: 4A00
MeSH: D056660
OMIM: 618852
Reference
PMID:31827281 (RIPK1)
  Authors
Lalaoui N, Boyden SE, Oda H, Wood GM, Stone DL, Chau D, Liu L, Stoffels M, Kratina T, Lawlor KE, Zaal KJM, Hoffmann PM, Etemadi N, Shield-Artin K, Biben C, Tsai WL, Blake MD, Kuehn HS, Yang D, Anderton H, Silke N, Wachsmuth L, Zheng L, Moura NS, Beck DB, Gutierrez-Cruz G, Ombrello AK, Pinto-Patarroyo GP, Kueh AJ, Herold MJ, Hall C, Wang H, Chae JJ, Dmitrieva NI, McKenzie M, Light A, Barham BK, Jones A, Romeo TM, Zhou Q, Aksentijevich I, Mullikin JC, Gross AJ, Shum AK, Hawkins ED, Masters SL, Lenardo MJ, Boehm M, Rosenzweig SD, Pasparakis M, Voss AK, Gadina M, Kastner DL, Silke J
  Title
Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease.
  Journal
Nature 577:103-108 (2020)
DOI:10.1038/s41586-019-1828-5
Reference
PMID:31827280 (RIPK1)
  Authors
Tao P, Sun J, Wu Z, Wang S, Wang J, Li W, Pan H, Bai R, Zhang J, Wang Y, Lee PY, Ying W, Zhou Q, Hou J, Wang W, Sun B, Yang M, Liu D, Fang R, Han H, Yang Z, Huang X, Li H, Deuitch N, Zhang Y, Dissanayake D, Haude K, McWalter K, Roadhouse C, MacKenzie JJ, Laxer RM, Aksentijevich I, Yu X, Wang X, Yuan J, Zhou Q
  Title
A dominant autoinflammatory disease caused by non-cleavable variants of RIPK1.
  Journal
Nature 577:109-114 (2020)
DOI:10.1038/s41586-019-1830-y
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