| H01744 | |
| H number | H01744 |
| Name | Polyglucosan body myopathy |
| 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 |
| Network | nt06516(H01744) TNF signaling |
| Gene | (PGBM1) RBCK1 [HSA:10616] [KO:K10630] (PGBM2) GYG1 [HSA:2992] [KO:K00750] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 4A60.Y ICD-10: D89.8 OMIM: 615895 616199 |
| Reference | PMID:23104095 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 PMID:23798481 (PGBM1) 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 PMID:23160206 (PGBM1) 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 PMID:25272951 (PGBM2) AUTHORS 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. JOURNAL Ann Neurol 76:891-8 (2014) DOI:10.1002/ana.24284 |