| H01744 | |
| H番号 | H01744 |
| 名称 | ポリグルコサン小体ミオパチー |
| 概要 | 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. |
| カテゴリ | 免疫系疾患 |
| ネットワーク | nt06516(H01744) TNF signaling |
| 病因遺伝子 | (PGBM1) RBCK1 [HSA:10616] [KO:K10630] (PGBM2) GYG1 [HSA:2992] [KO:K00750] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 4A60.Y ICD-10: D89.8 OMIM: 615895 616199 |
| 文献 | PMID:23104095 著者 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 タイトル Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency. 雑誌 Nat Immunol 13:1178-86 (2012) DOI:10.1038/ni.2457 PMID:23798481 (PGBM1) 著者 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 タイトル Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1. 雑誌 Ann Neurol 74:914-9 (2013) DOI:10.1002/ana.23963 PMID:23160206 (PGBM1) 著者 Ombrello MJ, Kastner DL, Milner JD タイトル HOIL and water: the two faces of HOIL-1 deficiency. 雑誌 Nat Immunol 13:1133-5 (2012) DOI:10.1038/ni.2471 PMID:25272951 (PGBM2) 著者 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 タイトル A new muscle glycogen storage disease associated with glycogenin-1 deficiency. 雑誌 Ann Neurol 76:891-8 (2014) DOI:10.1002/ana.24284 |