KEGG   DISEASE: Autoinflammation with episodic fever and immune dysregulation
Entry
H02826                      Disease                                
Name
Autoinflammation with episodic fever and immune dysregulation
Description
Autoinflammation with episodic fever and immune dysregulation (AIFID) is a novel autoinflammatory disorder characterized by recurrent fever, parotitis, joint inflammation, colitis, and chronicotitis media. It has been reported that mutations in SHARPIN cause this disorder. SHARPIN is a component of the linear ubiquitin assembly complex (LUBAC), that mediates the conjugation of linear ubiquitin chains to various target molecules of the NF-kappaB pathway and other signaling complexes.
Category
Immune system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 04 Diseases of the immune system
  Autoinflammatory disorders
   4A6Y  Other specified autoinflammatory disorders
    H02826  Autoinflammation with episodic fever and immune dysregulation
Gene
SHARPIN [HSA:81858] [KO:K20894]
Other DBs
ICD-11: 4A6Y
OMIM: 620795
Reference
PMID:38609546
  Authors
Oda H, Manthiram K, Chavan PP, Rieser E, Veli O, Kaya O, Rauch C, Nakabo S, Kuehn HS, Swart M, Wang Y, Celik NI, Molitor A, Ziaee V, Movahedi N, Shahrooei M, Parvaneh N, Alipour-Olyei N, Carapito R, Xu Q, Preite S, Beck DB, Chae JJ, Nehrebecky M, Ombrello AK, Hoffmann P, Romeo T, Deuitch NT, Matthiasardottir B, Mullikin J, Komarow H, Stoddard J, Niemela J, Dobbs K, Sweeney CL, Anderton H, Lawlor KE, Yoshitomi H, Yang D, Boehm M, Davis J, Mudd P, Randazzo D, Tsai WL, Gadina M, Kaplan MJ, Toguchida J, Mayer CT, Rosenzweig SD, Notarangelo LD, Iwai K, Silke J, Schwartzberg PL, Boisson B, Casanova JL, Bahram S, Rao AP, Peltzer N, Walczak H, Lalaoui N, Aksentijevich I, Kastner DL
  Title
Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency.
  Journal
Nat Immunol 25:764-777 (2024)
DOI:10.1038/s41590-024-01817-w
Reference
PMID:17538631
  Authors
Seymour RE, Hasham MG, Cox GA, Shultz LD, Hogenesch H, Roopenian DC, Sundberg JP
  Title
Spontaneous mutations in the mouse Sharpin gene result in multiorgan inflammation, immune system dysregulation and dermatitis.
  Journal
Genes Immun 8:416-21 (2007)
DOI:10.1038/sj.gene.6364403
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