KEGG   DISEASE: Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
Entry
H01744                      Disease                                

Name
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis;
HOIL-1 deficiency
Description
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis is a rare autosomal recessive disorder characterized by chronic autoinflammation, invasive bacterial infections, and muscular amylopectinosis. Patients carried biallelic loss-of-expression and loss-of-function mutations in HOIL1 (RBCK1) gene coding for a component of the linear ubiquitination chain assembly complex (LUBAC). The patients developed recurrent episodes of fever and systemic inflammation with higher concentrations of acute-phase markers, hepatosplenomegaly and lymphadenopathy very early in life. These features are commonly seen in the primary autoinflammatory diseases, although these HOIL-1-deficient patients failed to develop other cardinal features of the primary autoinflammatory diseases, such as pleuritis, pericarditis, peritonitis, or neutrophilic dermatoses.
Category
Immune system disease
Brite
Human diseases [BR:br08402]
 Immune system diseases
  Other immune system diseases
   H01744  Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
Human diseases in ICD-11 classification [BR:br08403]
 04 Diseases of the immune system
  Autoinflammatory disorders
   4A60  Monogenic autoinflammatory syndromes
    H01744  Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
Pathway
hsa04621  NOD-like receptor signaling pathway
Gene
RBCK1 [HSA:10616] [KO:K10630]
Other DBs
ICD-11: 4A60.Y
ICD-10: D89.8
OMIM: 615895
Reference
  Authors
Boisson B, Laplantine E, Prando C, Giliani S, Israelsson E, Xu Z, Abhyankar A, Israel L, Trevejo-Nunez G, Bogunovic D, Cepika AM, MacDuff D, Chrabieh M, Hubeau M, Bajolle F, Debre M, Mazzolari E, Vairo D, Agou F, Virgin HW, Bossuyt X, Rambaud C, Facchetti F, Bonnet D, Quartier P, Fournet JC, Pascual V, Chaussabel D, Notarangelo LD, Puel A, Israel A, Casanova JL, Picard C
  Title
Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency.
  Journal
Nat Immunol 13:1178-86 (2012)
DOI:10.1038/ni.2457
Reference
  Authors
Nilsson J, Schoser B, Laforet P, Kalev O, Lindberg C, Romero NB, Davila Lopez M, Akman HO, Wahbi K, Iglseder S, Eggers C, Engel AG, Dimauro S, Oldfors A
  Title
Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1.
  Journal
Ann Neurol 74:914-9 (2013)
DOI:10.1002/ana.23963
Reference
  Authors
Ombrello MJ, Kastner DL, Milner JD
  Title
HOIL and water: the two faces of HOIL-1 deficiency.
  Journal
Nat Immunol 13:1133-5 (2012)
DOI:10.1038/ni.2471
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