Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis HOIL-1 deficiency
Description
Polyglucosan body myopathy (PGBM) 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 in ICD-11 classification [BR:br08403]
04 Diseases of the immune system
Autoinflammatory disorders
4A60 Monogenic autoinflammatory syndromes
H01744 Polyglucosan body myopathy
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06516 TNF signaling
H01744 Polyglucosan body myopathy
Malfatti E, Nilsson J, Hedberg-Oldfors C, Hernandez-Lain A, Michel F, Dominguez-Gonzalez C, Viennet G, Akman HO, Kornblum C, Van den Bergh P, Romero NB, Engel AG, DiMauro S, Oldfors A
Title
A new muscle glycogen storage disease associated with glycogenin-1 deficiency.
