KEGG   DISEASE: H00924Help
Entry
H00924                      Disease                                

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
BRITE hierarchy
Pathway
Non-homologous end-joining
Gene
NHEJ1 [HSA:79840] [KO:K10980]
Comment
LIG4 deficiency and Nijmegen breakage syndrome are described in H00094.
Other DBs
MeSH: 
OMIM: 
Reference
PMID:16439204 (description, gene)
  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)
Reference
PMID:20597108 (description, gene)
  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)
Reference
PMID:19223975 (description, gene)
  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)
Reference
PMID:16439205 (description)
  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)

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