KEGG DISEASE: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation

DISEASE: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation

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

Human diseases in ICD-11 classification [BR:br08403]
04 Diseases of the immune system
  Primary immunodeficiencies
   4A01  Primary immunodeficiencies due to disorders of adaptive immunity
    H00924  Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
Pathway-based classification of diseases [BR:br08402]
Replication and repair
  nt06506  Double-strand break repair
   H00924  Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation

Pathway

hsa03450

Non-homologous end-joining

Network

nt06506 Double-strand break repair

Gene

NHEJ1 [HSA:79840] [KO:K10980]

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

Reference

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

Reference

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

Reference

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

LinkDB

» Japanese version

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