MCID: SVR031
MIFTS: 38

Severe Combined Immunodeficiency, Athabascan Type

Categories: Genetic diseases, Rare diseases, Blood diseases, Immune diseases

Aliases & Classifications for Severe Combined Immunodeficiency, Athabascan Type

MalaCards integrated aliases for Severe Combined Immunodeficiency, Athabascan Type:

Name: Severe Combined Immunodeficiency, Athabascan Type 54 12 56
Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation 12 50 24 71 29 13 69
Scid, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive, with Sensitivity to Ionizing Radiation 50 24
Severe Combined Immunodeficiency Due to Artemis Deficiency 12 56
Severe Combined Immunodeficiency Due to Dclre1c Deficiency 12 56
Severe Combined Immunodeficiency, Athabaskan Type 12 56
Scid Due to Artemis Deficiency 12 56
Scid Due to Dclre1c Deficiency 12 56
Scid, Athabascan Type 12 56
Scid, Athabaskan Type 12 56
Rs-Scid 50 24
Severe Combined Immunodeficiency Autosomal Recessive T-Cell-Negative/b-Cell-Negative/nk-Cell-Positive with Sensitivity to Ionizing Radiation 71
Severe Combined Immunodeficiency, Athabaskan-Type 69
Severe Combined Immunodeficiency Athabaskan Type 71
Athabascan Scid 71
Rsscid 71
Scida 71

Characteristics:

Orphanet epidemiological data:

56
severe combined immunodeficiency due to dclre1c deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood
variable phenotype
some patients may present with isolated antibody deficiency


HPO:

32
severe combined immunodeficiency, athabascan type:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Rare immunological diseases


External Ids:

OMIM 54 602450
Disease Ontology 12 DOID:0090012
ICD10 33 D81.1
Orphanet 56 ORPHA275
UMLS via Orphanet 70 C1865372
ICD10 via Orphanet 34 D81.1
MeSH 42 D016511

Summaries for Severe Combined Immunodeficiency, Athabascan Type

UniProtKB/Swiss-Prot : 71 Severe combined immunodeficiency Athabaskan type: A variety of SCID with sensitivity to ionizing radiation. A founder mutation has been detected in Athabascan-speaking native Americans, being inherited as an autosomal recessive trait. Affected individuals exhibit clinical symptoms and defects in DNA repair comparable to those seen in RS-SCID. Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive with sensitivity to ionizing radiation: A form of severe combined immunodeficiency, a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy with recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. Individuals affected by RS-SCID show defects in the DNA repair machinery necessary for coding joint formation and the completion of V(D)J recombination. A subset of cells from such patients show increased radiosensitivity.

MalaCards based summary : Severe Combined Immunodeficiency, Athabascan Type, also known as severe combined immunodeficiency with sensitivity to ionizing radiation, is related to lig4 syndrome and seckel syndrome, and has symptoms including failure to thrive, diarrhea and otitis media. An important gene associated with Severe Combined Immunodeficiency, Athabascan Type is DCLRE1C (DNA Cross-Link Repair 1C), and among its related pathways/superpathways are DNA Damage and DNA Double Strand Break Response. Affiliated tissues include b cells, t cells and nk cells, and related phenotype is Decreased shRNA abundance (Z-score < -2).

NIH Rare Diseases : 50 this condition doesn't have a summary yet. please see our page(s) on severe combined immunodeficiency.

Disease Ontology : 12 A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive with sensitivity to ionizing radiation and that has material basis in mutation in the DCLRE1C gene on chromosome 10p13.

Description from OMIM: 602450

Related Diseases for Severe Combined Immunodeficiency, Athabascan Type

Diseases related to Severe Combined Immunodeficiency, Athabascan Type via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 lig4 syndrome 9.9
2 seckel syndrome 9.9
3 omenn syndrome 9.6 DCLRE1C LIG4
4 janus kinase-3 deficiency 9.6 DCLRE1C LIG4
5 combined oxidative phosphorylation deficiency 27 9.5 DCLRE1C LIG4
6 silicosis 9.5 DCLRE1C LIG4
7 childhood cerebellar astrocytic neoplasm 9.4 DCLRE1C LIG4
8 autoimmune thyroid disease 4 9.2 DCLRE1C LIG4

Graphical network of the top 20 diseases related to Severe Combined Immunodeficiency, Athabascan Type:



Diseases related to Severe Combined Immunodeficiency, Athabascan Type

Symptoms & Phenotypes for Severe Combined Immunodeficiency, Athabascan Type

Symptoms via clinical synopsis from OMIM:

54

Growth- Other:
failure to thrive

Immunology:
hypogammaglobulinemia
decreased numbers of b cells
reduced/absent cd3+ t cells
very low lymphocyte proliferation in response to mitogens and alloantigens
absent thymus
more
Respiratory- Lung:
pneumonia

Genitourinary- External Genitalia Female:
genital ulcers

Respiratory- Airways:
recurrent upper respiratory tract infections

Abdomen- Gastroin testinal:
diarrhea

Head And Neck- Ears:
otitis media

Head And Neck- Mouth:
oral ulcers

Genitourinary- External Genitalia Male:
genital ulcers

Respiratory- Nasopharynx:
absent tonsils


Clinical features from OMIM:

602450

Human phenotypes related to Severe Combined Immunodeficiency, Athabascan Type:

32 (show all 11)
id Description HPO Frequency HPO Source Accession
1 failure to thrive 32 HP:0001508
2 diarrhea 32 HP:0002014
3 otitis media 32 HP:0000388
4 pneumonia 32 HP:0002090
5 panhypogammaglobulinemia 32 HP:0003139
6 genital ulcers 32 HP:0003249
7 severe combined immunodeficiency 32 HP:0004430
8 recurrent upper respiratory tract infections 32 HP:0002788
9 oral ulcer 32 HP:0000155
10 aplasia of the thymus 32 HP:0005359
11 lymph node hypoplasia 32 HP:0002732

UMLS symptoms related to Severe Combined Immunodeficiency, Athabascan Type:


diarrhea

GenomeRNAi Phenotypes related to Severe Combined Immunodeficiency, Athabascan Type according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.61 LIG4
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.61 LIG4
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.61 DCLRE1C
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.61 DCLRE1C
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.61 DCLRE1C LIG4
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.61 DCLRE1C
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.61 LIG4
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-87 9.61 DCLRE1C
9 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 8.62 DCLRE1C LIG4

Drugs & Therapeutics for Severe Combined Immunodeficiency, Athabascan Type

Search Clinical Trials , NIH Clinical Center for Severe Combined Immunodeficiency, Athabascan Type

Genetic Tests for Severe Combined Immunodeficiency, Athabascan Type

Genetic tests related to Severe Combined Immunodeficiency, Athabascan Type:

id Genetic test Affiliating Genes
1 Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation 29 24 LIG4 DCLRE1C

Anatomical Context for Severe Combined Immunodeficiency, Athabascan Type

MalaCards organs/tissues related to Severe Combined Immunodeficiency, Athabascan Type:

39
B Cells, T Cells, Nk Cells, Lymph Node, Thymus, Tonsil

Publications for Severe Combined Immunodeficiency, Athabascan Type

Variations for Severe Combined Immunodeficiency, Athabascan Type

UniProtKB/Swiss-Prot genetic disease variations for Severe Combined Immunodeficiency, Athabascan Type:

71
id Symbol AA change Variation ID SNP ID
1 DCLRE1C p.Gly118Val VAR_023078
2 DCLRE1C p.Gly135Glu VAR_023079

ClinVar genetic disease variations for Severe Combined Immunodeficiency, Athabascan Type:

6 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1 DCLRE1C NM_001033855.2(DCLRE1C): c.241C> T (p.Arg81Ter) single nucleotide variant Pathogenic rs121908156 GRCh37 Chromosome 10, 14987109: 14987109
2 DCLRE1C DCLRE1C, EX1-4DEL deletion Pathogenic
3 DCLRE1C DCLRE1C, EX5-6DEL deletion Pathogenic
4 DCLRE1C DCLRE1C, IVS11DS, G-C, +1 single nucleotide variant Pathogenic
5 DCLRE1C DCLRE1C, IVS10DS, G-A, +1 single nucleotide variant Pathogenic
6 DCLRE1C DCLRE1C, IVS5DS, G-T, +1 single nucleotide variant Pathogenic
7 DCLRE1C NM_022487.3(DCLRE1C): c.435delG (p.Ala146Glnfs) deletion Pathogenic rs786205074 GRCh37 Chromosome 10, 14974853: 14974853
8 DCLRE1C DCLRE1C, EX5-8DEL deletion Pathogenic
9 DCLRE1C NM_001033855.2(DCLRE1C): c.597C> A (p.Tyr199Ter) single nucleotide variant Pathogenic rs121908157 GRCh37 Chromosome 10, 14976460: 14976460
10 LIG4 NM_002312.3(LIG4): c.8C> T (p.Ala3Val) single nucleotide variant protective rs1805389 GRCh37 Chromosome 13, 108863609: 108863609
11 LIG4 NM_002312.3(LIG4): c.26C> T (p.Thr9Ile) single nucleotide variant protective rs1805388 GRCh37 Chromosome 13, 108863591: 108863591
12 DCLRE1C NM_001033855.2(DCLRE1C): c.1669_1670insA (p.Thr557Asnfs) insertion Pathogenic rs886037924 GRCh38 Chromosome 10, 14908818: 14908818
13 DCLRE1C NM_001033855.2(DCLRE1C): c.194C> T (p.Thr65Ile) single nucleotide variant Pathogenic rs886037925 GRCh37 Chromosome 10, 14987156: 14987156

Expression for Severe Combined Immunodeficiency, Athabascan Type

Search GEO for disease gene expression data for Severe Combined Immunodeficiency, Athabascan Type.

Pathways for Severe Combined Immunodeficiency, Athabascan Type

Pathways related to Severe Combined Immunodeficiency, Athabascan Type according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.62 DCLRE1C LIG4
2
Show member pathways
11.32 DCLRE1C LIG4
3 10 DCLRE1C LIG4

GO Terms for Severe Combined Immunodeficiency, Athabascan Type

Cellular components related to Severe Combined Immunodeficiency, Athabascan Type according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 nuclear chromosome, telomeric region GO:0000784 8.96 DCLRE1C LIG4
2 nonhomologous end joining complex GO:0070419 8.62 DCLRE1C LIG4

Biological processes related to Severe Combined Immunodeficiency, Athabascan Type according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.43 DCLRE1C LIG4
2 DNA repair GO:0006281 9.4 DCLRE1C LIG4
3 DNA recombination GO:0006310 9.37 DCLRE1C LIG4
4 double-strand break repair via nonhomologous end joining GO:0006303 9.32 DCLRE1C LIG4
5 double-strand break repair GO:0006302 9.26 DCLRE1C LIG4
6 response to ionizing radiation GO:0010212 9.16 DCLRE1C LIG4
7 chromosome organization GO:0051276 8.96 DCLRE1C LIG4
8 V(D)J recombination GO:0033151 8.62 DCLRE1C LIG4

Sources for Severe Combined Immunodeficiency, Athabascan Type

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
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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