MCID: ART009
MIFTS: 26

Artemis Deficiency malady

Summaries for Artemis Deficiency

Sources:
8Disease Ontology, 33MalaCards
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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: Artemis Deficiency is related to severe combined immunodeficiency, athabascan type and b cell deficiency. An important gene associated with Artemis Deficiency is DCLRE1C (DNA cross-link repair 1C), and among its related pathways are Nucleotide Excision Repair and Chks in Checkpoint Regulation. The compounds caffeine and probenecid have been mentioned in the context of this disorder. Affiliated tissues include nk cells, t cells and b cells, and related mouse phenotypes are skeleton and endocrine/exocrine gland.

Aliases & Classifications for Artemis Deficiency

Sources:
8Disease Ontology
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Aliases & Descriptions:

artemis deficiency 8


External Ids:

Disease Ontology8 DOID:0060006

Related Diseases for Artemis Deficiency

Sources:
17GeneCards, 18GeneDecks
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Graphical network of diseases related to Artemis Deficiency:



Diseases related to artemis deficiency

Clinical Features for Artemis Deficiency

Drugs & Therapeutics for Artemis Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Artemis Deficiency

Search CenterWatch for Artemis Deficiency

Genetic Tests for Artemis Deficiency

Anatomical Context for Artemis Deficiency

Sources:
33MalaCards
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MalaCards organs/tissues related to Artemis Deficiency:

33
Nk cells, T cells, B cells

Animal Models for Artemis Deficiency or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Artemis Deficiency

Sources:
51PubMed
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Articles related to Artemis Deficiency:

idTitleAuthorsYear
1
Novel spontaneous deletion of artemis exons 10 and 11 in mice leads to T- and B-cell deficiency. (24069355)
2013
2
Diagnosis of 22q11.2 deletion syndrome and artemis deficiency in two children with T-B-NK+ immunodeficiency. (22864628)
2012
3
Plasmodium falciparum clearance with artemisinin-based combination therapy (ACT) in patients with glucose-6-phosphate dehydrogenase deficiency in Mali. (21092137)
2010
4
Chronic inflammatory bowel disease as key manifestation of atypical ARTEMIS deficiency. (19967552)
2010
5
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
6
Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency. (11336668)
2001

Genetic Variations for Artemis Deficiency

Expression for genes affiliated with Artemis Deficiency

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Artemis Deficiency

Search GEO for disease gene expression data for Artemis Deficiency.

Pathways for genes affiliated with Artemis Deficiency

Sources:
54Reactome, 52QIAGEN, 30KEGG, 12EMD Millipore, 38NCBI BioSystems Database
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Compounds for genes affiliated with Artemis Deficiency

Sources:
45Novoseek, 50PharmGKB, 29IUPHAR, 2BitterDB, 11DrugBank, 24HMDB, 60Tocris Bioscience
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Compounds related to Artemis Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1caffeine45 50 29 2 11 2414.3RAG2, RAG1
2probenecid45 29 60 50 1113.2RAG2, RAG1
3cytidine45 11 2411.0RAG2, RAG1

GO Terms for genes affiliated with Artemis Deficiency

Sources:
16Gene Ontology
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Cellular components related to Artemis Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nonhomologous end joining complexGO:0704199.1PRKDC, XRCC4
2DNA-dependent protein kinase-DNA ligase 4 complexGO:0059588.8PRKDC, XRCC4

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1pre-B cell allelic exclusionGO:0023319.6RAG2, RAG1
2V(D)J recombinationGO:0331519.4RAG2, RAG1
3DNA recombinationGO:0063109.4RAG1, DCLRE1C
4T cell lineage commitmentGO:0023609.3RAG2, PRKDC
5pro-B cell differentiationGO:0023289.3XRCC4, PRKDC
6B cell lineage commitmentGO:0023269.3PRKDC, RAG2
7immunoglobulin V(D)J recombinationGO:0331529.2PRKDC, XRCC4
8double-strand break repair via nonhomologous end joiningGO:0063039.1XRCC4, PRKDC
9B cell differentiationGO:0301839.1RAG2, RAG1, DCLRE1C
10response to gamma radiationGO:0103329.0PRKDC, XRCC4
11double-strand break repairGO:0063028.9XRCC4, PRKDC, DCLRE1C
12telomere maintenanceGO:0007238.9DCLRE1C, PRKDC
13T cell differentiation in thymusGO:0330778.3RAG2, RAG1, PRKDC, XRCC4

Molecular functions related to Artemis Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endonuclease activityGO:0045199.0RAG2, RAG1
2DNA bindingGO:0036778.0RAG2, RAG1, PRKDC, XRCC4

Products for genes affiliated with Artemis Deficiency

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Artemis Deficiency

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet