KEGG   DISEASE: Immunodeficiency associated with DNA repair defectsHelp
H00094                      Disease                                

Immunodeficiency associated with DNA repair defects
Ataxia telangiectasia (AT) [DS:H00064]
Ataxia-telangiectasia-like syndrome [DS:H02014]
Nijmegen syndrome [DS:H01344]
DNA ligase I deficiency
DNA ligase IV deficiency [DS:H02015]
Bloom syndrome [DS:H01346]
A number of genetically determined disorders collectively called as the chromosome breakage syndromes or DNA-repair disorders have a characteristic cytogenetic feature, chromosome instability. They are all autosomal recessive, show an increased tendency for chromosomal aberrations and to develop malignancies. Ataxia telangiectasia (AT), Nijmegen breakage syndrome (NBS), and an ataxia-like disorder (ATLD), are chromosome instability disorders that are defective in the ataxia telangiectasia mutated (ATM), NBS, and Mre11 genes, respectively. These genes are critical in maintaining cellular resistance to ionizing radiation (IR), which kills largely by the production of double-strand breaks (DSBs). Bloom syndrome involves a defect in the BLM helicase, which seems to play a role in restarting DNA replication forks that are blocked at lesions, thereby promoting chromosome stability. A point mutational change in DNA ligase I was identified in a unique immunodeficient individual who suffered recurrent sinopulmonary infection leading to bronchiectasis. A non-inactivating mutational change in DNA ligase IV has also been identified in a leukaemia patient, who was dramatically over-sensitive to radiotherapy.
Primary immunodeficiency
Human diseases [BR:br08402]
 Immune system diseases
  Primary immunodeficiency
   H00094  Immunodeficiency associated with DNA repair defects
Human diseases in ICD-10 classification [BR:br08403]
 3. Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism (D50-D89)
  D80-D89  Certain disorders involving the immune mechanism
   D82  Immunodeficiency associated with other major defects
    H00094  DNA repair defects
 6. Diseases of the nervous system (G00-G99)
  G10-G14  Systemic atrophies primarily affecting the central nervous system
   G11  Hereditary ataxia
    H00094  DNA repair defects
BRITE hierarchy
Homologous recombination
ATM [HSA:472] [KO:K04728]
MRE11A [HSA:4361] [KO:K10865]
NBS1(Nibrin) [HSA:4683] [KO:K10867]
LIG1 [HSA:3978] [KO:K10747]
LIG4 [HSA:3981] [KO:K10777]
BLM [HSA:641] [KO:K10901]
Other DBs
PMID:12427531 (gene)
Thompson LH, Schild D
Recombinational DNA repair and human disease.
Mutat Res 509:49-78 (2002)
PMID:17162365 (gene)
Kumar A, Teuber SS, Gershwin ME.
Current perspectives on primary immunodeficiency diseases.
Clin Dev Immunol 13:223-59 (2006)
PMID:9737224 (gene)
Ten RM.
Primary immunodeficiencies.
Mayo Clin Proc 73:865-72 (1998)
PMID:15096561 (gene)
Lim MS, Elenitoba-Johnson KS.
The molecular pathology of primary immunodeficiencies.
J Mol Diagn 6:59-83 (2004)
PMID:18424339 (gene)
Morra M, Geigenmuller U, Curran J, Rainville IR, Brennan T, Curtis J, Reichert V, Hovhannisyan H, Majzoub J, Miller DT.
Genetic diagnosis of primary immune deficiencies.
Immunol Allergy Clin North Am 28:387-412, x (2008)
PMID:17952897 (gene)
Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J.
Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
J Allergy Clin Immunol 120:776-94 (2007)

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