Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis;
HOIL-1 deficiency

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.

Immune system disease

RBCK1 [HSA:10616] [KO:K10630]

PMID:23104095

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

Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency.

Nat Immunol 13:1178-86 (2012)
DOI:10.1038/ni.2457

PMID:23798481

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

Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1.

Ann Neurol 74:914-9 (2013)
DOI:10.1002/ana.23963

PMID:23160206

Ombrello MJ, Kastner DL, Milner JD

HOIL and water: the two faces of HOIL-1 deficiency.

Nat Immunol 13:1133-5 (2012)
DOI:10.1038/ni.2471