| H00924 | |
| H number | H00924 |
| Name | Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation; NHEJ1 syndrome |
| Description | 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. |
| Category | Primary immunodeficiency |
| Network | nt06506(H00924) Double-strand break repair |
| Gene | NHEJ1 [HSA:79840] [KO:K10980] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | LIG4 deficiency and Nijmegen breakage syndrome are described in H00094. |
| Other DBs | ICD-11: 4A01.1Y MeSH: C566970 OMIM: 611291 |
| Reference | PMID:16439204 AUTHORS 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 TITLE Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly. JOURNAL Cell 124:287-99 (2006) DOI:10.1016/j.cell.2005.12.030 PMID:20597108 AUTHORS 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 TITLE Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype. JOURNAL Hum Mutat 31:1059-68 (2010) DOI:10.1002/humu.21315 PMID:19223975 AUTHORS Schwartz M, Oren YS, Bester AC, Rahat A, Sfez R, Yitzchaik S, de Villartay JP, Kerem B TITLE Impaired replication stress response in cells from immunodeficiency patients carrying Cernunnos/XLF mutations. JOURNAL PLoS One 4:e4516 (2009) DOI:10.1371/journal.pone.0004516 PMID:16439205 AUTHORS Ahnesorg P, Smith P, Jackson SP TITLE XLF interacts with the XRCC4-DNA ligase IV complex to promote DNA nonhomologous end-joining. JOURNAL Cell 124:301-13 (2006) DOI:10.1016/j.cell.2005.12.031 |