| H00924 | |
| H番号 | H00924 |
| 名称 | NHEJ1 症候群 |
| 概要 | Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation is a syndrome associated with T and B cell-combined lymphocytopenia, growth retardation, microcephaly, and increased cellular radiosensitivity. Mutations in human NHEJ1 can lead to lymphocytopenia due to its role in V(D)J recombination in the immune system. This disease shows features common with the ones observed in LIG4 deficiency or Nijmegen breakage syndrome. |
| カテゴリ | 原発性免疫不全症 |
| ネットワーク | nt06506(H00924) Double-strand break repair |
| 病因遺伝子 | NHEJ1 [HSA:79840] [KO:K10980] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | LIG4 deficiency and Nijmegen breakage syndrome are described in H00094. |
| リンク | ICD-11: 4A01.1Y MeSH: C566970 OMIM: 611291 |
| 文献 | PMID:16439204 著者 Buck D, Malivert L, de Chasseval R, Barraud A, Fondaneche MC, Sanal O, Plebani A, Stephan JL, Hufnagel M, le Deist F, Fischer A, Durandy A, de Villartay JP, Revy P タイトル Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly. 雑誌 Cell 124:287-99 (2006) DOI:10.1016/j.cell.2005.12.030 PMID:20597108 著者 Dutrannoy V, Demuth I, Baumann U, Schindler D, Konrat K, Neitzel H, Gillessen-Kaesbach G, Radszewski J, Rothe S, Schellenberger MT, Nurnberg G, Nurnberg P, Teik KW, Nallusamy R, Reis A, Sperling K, Digweed M, Varon R タイトル Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype. 雑誌 Hum Mutat 31:1059-68 (2010) DOI:10.1002/humu.21315 PMID:19223975 著者 Schwartz M, Oren YS, Bester AC, Rahat A, Sfez R, Yitzchaik S, de Villartay JP, Kerem B タイトル Impaired replication stress response in cells from immunodeficiency patients carrying Cernunnos/XLF mutations. 雑誌 PLoS One 4:e4516 (2009) DOI:10.1371/journal.pone.0004516 PMID:16439205 著者 Ahnesorg P, Smith P, Jackson SP タイトル XLF interacts with the XRCC4-DNA ligase IV complex to promote DNA nonhomologous end-joining. 雑誌 Cell 124:301-13 (2006) DOI:10.1016/j.cell.2005.12.031 |