MCID: ART009
MIFTS: 17

Artemis Deficiency malady

Immune diseases category
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Summaries for Artemis Deficiency

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Disease Ontology:8 A severe combined immunodeficiency that is caused when the dclrei1, dna cross-link repair 1c gene contains mutations resulting in the inability to repair dna.

MalaCards based summary: Artemis Deficiency is related to severe combined immunodeficiency, athabascan type and inflammatory bowel disease. An important gene associated with Artemis Deficiency is DCLRE1C (DNA cross-link repair 1C), and among its related pathways is Non-homologous end-joining. Related mouse phenotypes are immune system and hematopoietic system.

Aliases & Classifications for Artemis Deficiency

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Artemis Deficiency, Aliases & Descriptions:

Name: Artemis Deficiency 8


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Immune diseases


External Ids:

Disease Ontology8 DOID:0060006

Related Diseases for Artemis Deficiency

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Diseases related to Artemis Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1severe combined immunodeficiency, athabascan type10.3
2inflammatory bowel disease10.1
3ataxia telangiectasia9.9PRKDC, DCLRE1C
4severe combined immunodeficiency9.8PRKDC, DCLRE1C

Symptoms for Artemis Deficiency

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Drugs & Therapeutics for Artemis Deficiency

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Drug clinical trials:

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Genetic Tests for Artemis Deficiency

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Anatomical Context for Artemis Deficiency

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Animal Models for Artemis Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Artemis Deficiency:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053879.1PRKDC, DCLRE1C
2MP:00053978.8PRKDC, DCLRE1C

Publications for Artemis Deficiency

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Articles related to Artemis Deficiency:

idTitleAuthorsYear
1
Variable correction of Artemis deficiency by I-Sce1-meganuclease-assisted homologous recombination in murine hematopoietic stem cells. (24622732)
2014
2
The many faces of Artemis-deficient combined immunodeficiency - Two patients with DCLRE1C mutations and a systematic literature review of genotype-phenotype correlation. (24230999)
2013
3
Diagnosis of 22q11.2 deletion syndrome and artemis deficiency in two children with T-B-NK+ immunodeficiency. (22864628)
2012
4
Differences in sensitivity to DNA-damaging Agents between XRCC4- and Artemis-deficient human cells. (21785230)
2011
5
Chronic inflammatory bowel disease as key manifestation of atypical ARTEMIS deficiency. (19967552)
2010
6
Stable and functional lymphoid reconstitution in artemis-deficient mice following lentiviral artemis gene transfer into hematopoietic stem cells. (18560421)
2008
7
Artemis deficiency confers a DNA double-strand break repair defect and Artemis phosphorylation status is altered by DNA damage and cell cycle progression. (15811628)
2005
8
Damaging-agent sensitivity of Artemis-deficient cell lines. (15770702)
2005

Variations for Artemis Deficiency

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Expression for genes affiliated with Artemis Deficiency

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Expression patterns in normal tissues for genes affiliated with Artemis Deficiency

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Pathways for genes affiliated with Artemis Deficiency

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Pathways related to Artemis Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Non-homologous end joining37
DNA damage NHEJ mechanisms of DSBs repair60
9.1PRKDC, DCLRE1C

Compounds for genes affiliated with Artemis Deficiency

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GO Terms for genes affiliated with Artemis Deficiency

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Biological processes related to Artemis Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1double-strand break repairGO:0063029.1PRKDC, DCLRE1C
2telomere maintenanceGO:0007238.8PRKDC, DCLRE1C

Products for genes affiliated with Artemis Deficiency

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  • Antibodies
  • Proteins
  • Lysates

Sources for Artemis Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet