MCID: ART009
MIFTS: 26

Artemis Deficiency malady

Category: Immune diseases

Aliases & Classifications for Artemis Deficiency

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Aliases & Descriptions for Artemis Deficiency:

Name: Artemis Deficiency 11 13

Classifications:



External Ids:

Disease Ontology11 DOID:0060006

Summaries for Artemis Deficiency

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Disease Ontology:11 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 omenn syndrome. An important gene associated with Artemis Deficiency is DCLRE1C (DNA Cross-Link Repair 1C), and among its related pathways are Primary immunodeficiency and Gemtuzumab ozogamicin Pathway, Pharmacokinetics/Pharmacodynamics. Related mouse phenotypes are liver/biliary system and digestive/alimentary.

Related Diseases for Artemis Deficiency

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Graphical network of diseases related to Artemis Deficiency:



Diseases related to artemis deficiency

Symptoms for Artemis Deficiency

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Drugs & Therapeutics for Artemis Deficiency

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Intrauterine Insemination In HIV-Discordant CouplesTerminatedNCT01173276

Search NIH Clinical Center for Artemis Deficiency

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:

39 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.5ABL1, EPB41, FOXP3, LIG4, PRKDC, RAG1
2MP:00053818.1ABL1, EFNA5, FOXP3, LIG4, PRKDC, RAG1
3MP:00053897.7EFNA5, FOXP3, H2AFX, LIG4, PRKDC, SEPT4
4MP:00053797.3ABL1, DCLRE1C, FOXP3, H2AFX, LIG4, PRKDC
5MP:00053877.1ABL1, DCLRE1C, EPB41, FOXP3, H2AFX, LIG4
6MP:00053977.0ABL1, DCLRE1C, EPB41, FOXP3, H2AFX, LIG4
7MP:00107686.9ABL1, EFNA5, EPB41, FOXP3, H2AFX, LIG4
8MP:00053766.6ABL1, EFNA5, EPB41, FOXP3, H2AFX, LIG4
9MP:00053846.5ABL1, DCLRE1C, EFNA5, FOXP3, H2AFX, LIG4

Publications for Artemis Deficiency

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Articles related to Artemis Deficiency:

(show all 13)
idTitleAuthorsYear
1
Lentivirus Mediated Correction of Artemis-deficient Severe Combined Immunodeficiency. (27611239)
2016
2
Epidermodysplasia verruciformis as a manifestation of ARTEMIS deficiency in a young adult. (27568080)
2016
3
Role of transgene regulation in ex vivo lentiviral correction of artemis deficiency. (25738323)
2015
4
Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency. (25917813)
2015
5
Variable correction of Artemis deficiency by I-Sce1-meganuclease-assisted homologous recombination in murine hematopoietic stem cells. (24622732)
2014
6
The many faces of Artemis-deficient combined immunodeficiency - Two patients with DCLRE1C mutations and a systematic literature review of genotype-phenotype correlation. (24230999)
2013
7
Diagnosis of 22q11.2 deletion syndrome and artemis deficiency in two children with T-B-NK+ immunodeficiency. (22864628)
2012
8
Differences in sensitivity to DNA-damaging Agents between XRCC4- and Artemis-deficient human cells. (21785230)
2011
9
Chronic inflammatory bowel disease as key manifestation of atypical ARTEMIS deficiency. (19967552)
2010
10
A non-leaky Artemis-deficient mouse that accurately models the human severe combined immune deficiency phenotype, including resistance to hematopoietic stem cell transplantation. (19135937)
2009
11
Stable and functional lymphoid reconstitution in artemis-deficient mice following lentiviral artemis gene transfer into hematopoietic stem cells. (18560421)
2008
12
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
13
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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Search GEO for disease gene expression data for Artemis Deficiency.

Pathways for genes affiliated with Artemis Deficiency

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GO Terms for genes affiliated with Artemis Deficiency

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Cellular components related to Artemis Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1DNA-dependent protein kinase-DNA ligase 4 complexGO:000595810.5LIG4, PRKDC
2nonhomologous end joining complexGO:007041910.0DCLRE1C, LIG4, PRKDC
3nuclear chromosome, telomeric regionGO:00007849.9DCLRE1C, LIG4, PRKDC
4nucleoplasmGO:00056547.3ABL1, DCLRE1C, H2AFX, LIG4, PRKDC, RAG1

Biological processes related to Artemis Deficiency according to GeneCards Suite gene sharing:

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1pro-B cell differentiationGO:000232810.5LIG4, PRKDC
2immunoglobulin V(D)J recombinationGO:003315210.4LIG4, PRKDC
3T cell receptor V(D)J recombinationGO:003315310.4LIG4, PRKDC
4response to gamma radiationGO:001033210.2LIG4, PRKDC
5negative regulation of cellular senescenceGO:200077310.1ABL1, PRKDC
6chromosome organizationGO:005127610.1DCLRE1C, LIG4
7T cell homeostasisGO:004302910.1FOXP3, RAG1
8spleen developmentGO:004853610.1ABL1, PRKDC
9collateral sproutingGO:004866810.1ABL1, EFNA5
10intrinsic apoptotic signaling pathway in response to DNA damageGO:000863010.0ABL1, PRKDC
11adaptive immune responseGO:00022509.7DCLRE1C, RAG1, SH2D1A
12thymus developmentGO:00485389.7ABL1, PRKDC, RAG1
13regulation of actin cytoskeleton organizationGO:00329569.6ABL1, EFNA5
14positive regulation of fibroblast proliferationGO:00481469.5ABL1, LIG4, PRKDC
15V(D)J recombinationGO:00331519.5DCLRE1C, LIG4, PRKDC, RAG1
16T cell differentiation in thymusGO:00330779.4LIG4, PRKDC, RAG1
17double-strand break repairGO:00063029.2DCLRE1C, H2AFX, LIG4, PRKDC
18double-strand break repair via nonhomologous end joiningGO:00063039.2DCLRE1C, H2AFX, LIG4, PRKDC
19response to ionizing radiationGO:00102128.9DCLRE1C, H2AFX, LIG4, PRKDC

Molecular functions related to Artemis Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1endonuclease activityGO:000451910.2DCLRE1C, RAG1
2protein bindingGO:00055155.5ABL1, DCLRE1C, EFNA5, EPB41, FOXP3, H2AFX

Sources for Artemis Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet