KEGG DISEASE: NHEJ1 症候群

DISEASE: NHEJ1 症候群

エントリ

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

階層分類

ICD-11 による疾患分類 [BR:jp08403]
04 免疫系の疾患
  原発性免疫不全症
   4A01  獲得免疫の疾患よる原発性免疫不全症
    H00924  NHEJ1 症候群
パスウェイに基づく疾患分類 [BR:jp08402]
複製と修復
  nt06506  二本鎖切断修復
   H00924  NHEJ1 症候群

パスウェイ

hsa03450

Non-homologous end-joining

ネットワーク

nt06506 Double-strand break repair

病因遺伝子

NHEJ1 [HSA:79840] [KO:K10980]

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

文献

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

文献

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

文献

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

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