MCID: ART009
MIFTS: 26

Artemis Deficiency malady

Categories: Immune diseases

Aliases & Classifications for Artemis Deficiency

Aliases & Descriptions for Artemis Deficiency:

Name: Artemis Deficiency 12 14

Classifications:



External Ids:

Disease Ontology 12 DOID:0060006

Summaries for Artemis Deficiency

Disease Ontology : 12 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 autoimmune thyroid disease 4. An important gene associated with Artemis Deficiency is DCLRE1C (DNA Cross-Link Repair 1C), and among its related pathways/superpathways are DNA Double-Strand Break Repair and NF-kappaB Signaling. Related phenotypes are Increased viability with MLN4924 (a NAE inhibitor) and Increased viability with tamoxifen

Related Diseases for Artemis Deficiency

Graphical network of the top 20 diseases related to Artemis Deficiency:



Diseases related to Artemis Deficiency

Symptoms & Phenotypes for Artemis Deficiency

GenomeRNAi Phenotypes related to Artemis Deficiency according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.35 ABL1 DCLRE1C H2AFX LIG4 PRKDC
2 Increased viability with tamoxifen GR00120-A 8.62 ABL1 PRKDC

MGI Mouse Phenotypes related to Artemis Deficiency:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.09 ABL1 DCLRE1C EFNA5 FOXP3 H2AFX LIG4
2 hematopoietic system MP:0005397 9.97 ABL1 DCLRE1C EPB41 FOXP3 H2AFX LIG4
3 endocrine/exocrine gland MP:0005379 9.91 RAG1 ABL1 DCLRE1C FOXP3 H2AFX LIG4
4 homeostasis/metabolism MP:0005376 9.91 ABL1 EFNA5 EPB41 FOXP3 H2AFX LIG4
5 digestive/alimentary MP:0005381 9.88 ABL1 EFNA5 FOXP3 LIG4 PRKDC RAG1
6 immune system MP:0005387 9.81 SH2D1A ABL1 DCLRE1C EPB41 FOXP3 H2AFX
7 liver/biliary system MP:0005370 9.43 ABL1 EPB41 FOXP3 LIG4 PRKDC RAG1
8 reproductive system MP:0005389 9.1 EFNA5 FOXP3 H2AFX LIG4 PRKDC SEPT4

Drugs & Therapeutics for Artemis Deficiency

Interventional clinical trials:


id Name Status NCT ID Phase
1 Intrauterine Insemination In HIV-Discordant Couples Terminated NCT01173276

Search NIH Clinical Center for Artemis Deficiency

Genetic Tests for Artemis Deficiency

Anatomical Context for Artemis Deficiency

Publications for Artemis Deficiency

Articles related to Artemis Deficiency:

(show all 13)
id Title Authors Year
1
Epidermodysplasia verruciformis as a manifestation of ARTEMIS deficiency in a young adult. ( 27568080 )
2016
2
Lentivirus Mediated Correction of Artemis-deficient Severe Combined Immunodeficiency. ( 27611239 )
2016
3
Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency. ( 25917813 )
2015
4
Role of transgene regulation in ex vivo lentiviral correction of artemis deficiency. ( 25738323 )
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
Damaging-agent sensitivity of Artemis-deficient cell lines. ( 15770702 )
2005
13
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

Variations for Artemis Deficiency

Expression for Artemis Deficiency

Search GEO for disease gene expression data for Artemis Deficiency.

Pathways for Artemis Deficiency

GO Terms for Artemis Deficiency

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

id Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.76 ABL1 DCLRE1C FOXP3 H2AFX LIG4 PRKDC
2 protein complex GO:0043234 9.62 ABL1 EPB41 FOXP3 PRKDC
3 nuclear chromosome, telomeric region GO:0000784 9.43 DCLRE1C LIG4 PRKDC
4 DNA-dependent protein kinase-DNA ligase 4 complex GO:0005958 8.96 LIG4 PRKDC
5 nonhomologous end joining complex GO:0070419 8.8 DCLRE1C LIG4 PRKDC

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

(show all 21)
id Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.89 ABL1 DCLRE1C H2AFX LIG4 PRKDC
2 DNA repair GO:0006281 9.8 ABL1 DCLRE1C H2AFX LIG4 PRKDC
3 adaptive immune response GO:0002250 9.74 DCLRE1C RAG1 SH2D1A
4 thymus development GO:0048538 9.63 ABL1 PRKDC RAG1
5 double-strand break repair GO:0006302 9.62 DCLRE1C H2AFX LIG4 PRKDC
6 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.6 ABL1 PRKDC
7 telomere maintenance GO:0000723 9.59 DCLRE1C PRKDC
8 spleen development GO:0048536 9.58 ABL1 PRKDC
9 response to gamma radiation GO:0010332 9.58 LIG4 PRKDC
10 T cell homeostasis GO:0043029 9.56 FOXP3 RAG1
11 double-strand break repair via nonhomologous end joining GO:0006303 9.56 DCLRE1C H2AFX LIG4 PRKDC
12 chromosome organization GO:0051276 9.55 DCLRE1C LIG4
13 negative regulation of cellular senescence GO:2000773 9.54 ABL1 PRKDC
14 T cell differentiation in thymus GO:0033077 9.54 LIG4 PRKDC RAG1
15 collateral sprouting GO:0048668 9.52 ABL1 EFNA5
16 T cell receptor V(D)J recombination GO:0033153 9.51 LIG4 PRKDC
17 pro-B cell differentiation GO:0002328 9.48 LIG4 PRKDC
18 response to ionizing radiation GO:0010212 9.46 DCLRE1C H2AFX LIG4 PRKDC
19 immunoglobulin V(D)J recombination GO:0033152 9.43 LIG4 PRKDC
20 DNA recombination GO:0006310 9.35 DCLRE1C H2AFX LIG4 PRKDC RAG1
21 V(D)J recombination GO:0033151 8.92 DCLRE1C LIG4 PRKDC RAG1

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

id Name GO ID Score Top Affiliating Genes
1 protein C-terminus binding GO:0008022 9.13 ABL1 EPB41 LIG4
2 ephrin receptor binding GO:0046875 8.62 ABL1 EFNA5

Sources for Artemis Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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44 MGI
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48 NDF-RT
51 NINDS
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54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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