MCID: IMM117
MIFTS: 22

Immunodeficiency by Defective Expression of Hla Class 1

Categories: Blood diseases, Immune diseases, Rare diseases

Aliases & Classifications for Immunodeficiency by Defective Expression of Hla Class 1

MalaCards integrated aliases for Immunodeficiency by Defective Expression of Hla Class 1:

Name: Immunodeficiency by Defective Expression of Hla Class 1 59
Bare Lymphocyte Syndrome Type 1 59 29 6 40

Characteristics:

Orphanet epidemiological data:

59
immunodeficiency by defective expression of hla class 1
Inheritance: Autosomal recessive; Age of onset: Childhood;

Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

Orphanet 59 ORPHA34592
UMLS via Orphanet 74 C1858266
ICD10 via Orphanet 34 D81.6

Summaries for Immunodeficiency by Defective Expression of Hla Class 1

MalaCards based summary : Immunodeficiency by Defective Expression of Hla Class 1, also known as bare lymphocyte syndrome type 1, is related to idiopathic bronchiectasis and spondylitis. An important gene associated with Immunodeficiency by Defective Expression of Hla Class 1 is TAP2 (Transporter 2, ATP Binding Cassette Subfamily B Member), and among its related pathways/superpathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. Related phenotypes are hematopoietic system and immune system

Related Diseases for Immunodeficiency by Defective Expression of Hla Class 1

Diseases related to Immunodeficiency by Defective Expression of Hla Class 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 idiopathic bronchiectasis 9.9 TAP1 TAP2
2 spondylitis 9.8 TAP1 TAP2
3 orbital melanoma 9.8 TAP1 TAPBP
4 spondyloarthropathy 1 9.8 B2M TAPBP
5 herpes simplex 9.8 TAP1 TAP2
6 bare lymphocyte syndrome, type i 9.6 TAP1 TAP2 TAPBP

Graphical network of the top 20 diseases related to Immunodeficiency by Defective Expression of Hla Class 1:



Diseases related to Immunodeficiency by Defective Expression of Hla Class 1

Symptoms & Phenotypes for Immunodeficiency by Defective Expression of Hla Class 1

MGI Mouse Phenotypes related to Immunodeficiency by Defective Expression of Hla Class 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.26 B2M TAP1 TAP2 TAPBP
2 immune system MP:0005387 8.92 B2M TAP1 TAP2 TAPBP

Drugs & Therapeutics for Immunodeficiency by Defective Expression of Hla Class 1

Search Clinical Trials , NIH Clinical Center for Immunodeficiency by Defective Expression of Hla Class 1

Genetic Tests for Immunodeficiency by Defective Expression of Hla Class 1

Genetic tests related to Immunodeficiency by Defective Expression of Hla Class 1:

# Genetic test Affiliating Genes
1 Bare Lymphocyte Syndrome Type 1 29 TAP1 TAP2 TAPBP

Anatomical Context for Immunodeficiency by Defective Expression of Hla Class 1

Publications for Immunodeficiency by Defective Expression of Hla Class 1

Variations for Immunodeficiency by Defective Expression of Hla Class 1

ClinVar genetic disease variations for Immunodeficiency by Defective Expression of Hla Class 1:

6 (show top 50) (show all 216)
# Gene Variation Type Significance SNP ID Assembly Location
1 TAPBP TAPBP, 7.4-KB DEL deletion Pathogenic
2 TAP2 NM_000544.3(TAP2): c.1993G> A (p.Ala665Thr) single nucleotide variant Benign rs241447 GRCh37 Chromosome 6, 32796751: 32796751
3 TAP2 NM_000544.3(TAP2): c.1993G> A (p.Ala665Thr) single nucleotide variant Benign rs241447 GRCh38 Chromosome 6, 32828974: 32828974
4 TAP2 NM_000544.3(TAP2): c.2059C> T (p.Gln687Ter) single nucleotide variant Benign rs241448 GRCh37 Chromosome 6, 32796685: 32796685
5 TAP2 NM_000544.3(TAP2): c.2059C> T (p.Gln687Ter) single nucleotide variant Benign rs241448 GRCh38 Chromosome 6, 32828908: 32828908
6 TAP2 TAP2, ARG253TER single nucleotide variant Pathogenic
7 TAP2 TAP2, 1-BP DEL deletion Pathogenic
8 TAP1 NM_000593.5(TAP1): c.2156G> A (p.Arg719Gln) single nucleotide variant Uncertain significance rs121917702 GRCh37 Chromosome 6, 32814909: 32814909
9 TAP1 NM_000593.5(TAP1): c.2156G> A (p.Arg719Gln) single nucleotide variant Uncertain significance rs121917702 GRCh38 Chromosome 6, 32847132: 32847132
10 TAP1 TAP1, IVS1, G-A, -1 single nucleotide variant Pathogenic
11 TAP2 NM_000544.3(TAP2): c.44T> C (p.Val15Ala) single nucleotide variant Benign/Likely benign rs55827768 GRCh37 Chromosome 6, 32805967: 32805967
12 TAP2 NM_000544.3(TAP2): c.44T> C (p.Val15Ala) single nucleotide variant Benign/Likely benign rs55827768 GRCh38 Chromosome 6, 32838190: 32838190
13 TAP2 NM_000544.3(TAP2): c.918G> A (p.Ala306=) single nucleotide variant Benign rs556799828 GRCh37 Chromosome 6, 32802958: 32802958
14 TAP2 NM_000544.3(TAP2): c.658C> A (p.Arg220=) single nucleotide variant Benign rs142794316 GRCh38 Chromosome 6, 32835724: 32835724
15 TAP2 NM_000544.3(TAP2): c.1398_1399delGGinsAA (p.Val467Ile) indel Benign rs369909014 GRCh38 Chromosome 6, 32830680: 32830681
16 TAP2 NM_000544.3(TAP2): c.1398_1399delGGinsAA (p.Val467Ile) indel Benign rs369909014 GRCh37 Chromosome 6, 32798457: 32798458
17 TAP2 NM_000544.3(TAP2): c.1147C> T (p.Leu383=) single nucleotide variant Likely benign rs761704456 GRCh37 Chromosome 6, 32800235: 32800235
18 TAP2 NM_000544.3(TAP2): c.1147C> T (p.Leu383=) single nucleotide variant Likely benign rs761704456 GRCh38 Chromosome 6, 32832458: 32832458
19 TAP2 NM_000544.3(TAP2): c.918G> A (p.Ala306=) single nucleotide variant Benign rs556799828 GRCh38 Chromosome 6, 32835181: 32835181
20 TAP2 NM_000544.3(TAP2): c.658C> A (p.Arg220=) single nucleotide variant Benign rs142794316 GRCh37 Chromosome 6, 32803501: 32803501
21 TAP2 NM_000544.3(TAP2): c.222C> A (p.Pro74=) single nucleotide variant Benign rs2229526 GRCh37 Chromosome 6, 32805789: 32805789
22 TAP2 NM_000544.3(TAP2): c.222C> A (p.Pro74=) single nucleotide variant Benign rs2229526 GRCh38 Chromosome 6, 32838012: 32838012
23 TAP1 NM_000593.5(TAP1): c.2163G> A (p.Pro721=) single nucleotide variant Benign rs41551515 GRCh37 Chromosome 6, 32814902: 32814902
24 TAP1 NM_000593.5(TAP1): c.2163G> A (p.Pro721=) single nucleotide variant Benign rs41551515 GRCh38 Chromosome 6, 32847125: 32847125
25 TAP1 NM_000593.5(TAP1): c.919G> A (p.Gly307Arg) single nucleotide variant Uncertain significance rs59328013 GRCh38 Chromosome 6, 32852214: 32852214
26 TAP1 NM_000593.5(TAP1): c.919G> A (p.Gly307Arg) single nucleotide variant Uncertain significance rs59328013 GRCh37 Chromosome 6, 32819991: 32819991
27 TAP1 NM_000593.5(TAP1): c.229G> C (p.Gly77Arg) single nucleotide variant Benign rs57640466 GRCh37 Chromosome 6, 32821365: 32821365
28 TAP1 NM_000593.5(TAP1): c.229G> C (p.Gly77Arg) single nucleotide variant Benign rs57640466 GRCh38 Chromosome 6, 32853588: 32853588
29 TAPBP NM_003190.4(TAPBP): c.972G> A (p.Gly324=) single nucleotide variant Benign rs61739590 GRCh38 Chromosome 6, 33304535: 33304535
30 TAPBP NM_003190.4(TAPBP): c.972G> A (p.Gly324=) single nucleotide variant Benign rs61739590 GRCh37 Chromosome 6, 33272312: 33272312
31 TAPBP NM_003190.4(TAPBP): c.562A> T (p.Thr188Ser) single nucleotide variant Uncertain significance rs561629511 GRCh38 Chromosome 6, 33305295: 33305295
32 TAPBP NM_003190.4(TAPBP): c.562A> T (p.Thr188Ser) single nucleotide variant Uncertain significance rs561629511 GRCh37 Chromosome 6, 33273072: 33273072
33 TAP2 NM_000544.3(TAP2): c.1826C> T (p.Ala609Val) single nucleotide variant Benign rs74770812 GRCh38 Chromosome 6, 32829506: 32829506
34 TAP2 NM_000544.3(TAP2): c.1826C> T (p.Ala609Val) single nucleotide variant Benign rs74770812 GRCh37 Chromosome 6, 32797283: 32797283
35 TAP2 NM_000544.3(TAP2): c.1161G> A (p.Val387=) single nucleotide variant Benign rs2856992 GRCh37 Chromosome 6, 32800221: 32800221
36 TAP2 NM_000544.3(TAP2): c.1161G> A (p.Val387=) single nucleotide variant Benign rs2856992 GRCh38 Chromosome 6, 32832444: 32832444
37 TAP2 NM_000544.3(TAP2): c.1144-6_1144-5delinsAC indel Benign rs386699797 GRCh37 Chromosome 6, 32800243: 32800244
38 TAP2 NM_000544.3(TAP2): c.1144-6_1144-5delinsAC indel Benign rs386699797 GRCh38 Chromosome 6, 32832466: 32832467
39 TAP2 NM_000544.3(TAP2): c.1120G> A (p.Ala374Thr) single nucleotide variant Benign rs111303994 GRCh38 Chromosome 6, 32832650: 32832650
40 TAP2 NM_000544.3(TAP2): c.1120G> A (p.Ala374Thr) single nucleotide variant Benign rs111303994 GRCh37 Chromosome 6, 32800427: 32800427
41 TAP2 NM_000544.3(TAP2): c.4C> T (p.Arg2Trp) single nucleotide variant Benign rs61736918 GRCh38 Chromosome 6, 32838230: 32838230
42 TAP2 NM_000544.3(TAP2): c.4C> T (p.Arg2Trp) single nucleotide variant Benign rs61736918 GRCh37 Chromosome 6, 32806007: 32806007
43 TAP1 NM_000593.5(TAP1): c.2123G> A (p.Arg708Gln) single nucleotide variant Benign rs1057149 GRCh38 Chromosome 6, 32847165: 32847165
44 TAP1 NM_000593.5(TAP1): c.2123G> A (p.Arg708Gln) single nucleotide variant Benign rs1057149 GRCh37 Chromosome 6, 32814942: 32814942
45 TAP1 NM_000593.5(TAP1): c.1732G> A (p.Val578Ile) single nucleotide variant Benign rs41561219 GRCh37 Chromosome 6, 32816443: 32816443
46 TAP1 NM_000593.5(TAP1): c.1732G> A (p.Val578Ile) single nucleotide variant Benign rs41561219 GRCh38 Chromosome 6, 32848666: 32848666
47 TAP1 NM_000593.5(TAP1): c.1552G> T (p.Val518Leu) single nucleotide variant Benign rs41550019 GRCh37 Chromosome 6, 32816772: 32816772
48 TAP1 NM_000593.5(TAP1): c.1552G> T (p.Val518Leu) single nucleotide variant Benign rs41550019 GRCh38 Chromosome 6, 32848995: 32848995
49 TAP1 NM_000593.5(TAP1): c.1435G> T (p.Gly479Cys) single nucleotide variant Benign rs2228110 GRCh37 Chromosome 6, 32816889: 32816889
50 TAP1 NM_000593.5(TAP1): c.1435G> T (p.Gly479Cys) single nucleotide variant Benign rs2228110 GRCh38 Chromosome 6, 32849112: 32849112

Expression for Immunodeficiency by Defective Expression of Hla Class 1

Search GEO for disease gene expression data for Immunodeficiency by Defective Expression of Hla Class 1.

Pathways for Immunodeficiency by Defective Expression of Hla Class 1

Pathways related to Immunodeficiency by Defective Expression of Hla Class 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.37 B2M TAP1 TAP2 TAPBP
2
Show member pathways
12.88 B2M TAP1 TAP2 TAPBP
3
Show member pathways
12.51 B2M TAP1 TAP2 TAPBP
4
Show member pathways
12.3 B2M TAP1 TAP2 TAPBP
5 12.06 B2M TAP1 TAP2
6
Show member pathways
11.9 B2M TAP1 TAP2 TAPBP
7 11.64 TAP1 TAP2
8 11.56 B2M TAP1 TAP2 TAPBP
9 11 TAP1 TAP2
10 10.32 B2M TAP1 TAP2 TAPBP

GO Terms for Immunodeficiency by Defective Expression of Hla Class 1

Cellular components related to Immunodeficiency by Defective Expression of Hla Class 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.58 TAP1 TAP2 TAPBP
2 endoplasmic reticulum membrane GO:0005789 9.54 TAP1 TAP2 TAPBP
3 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0033116 9.33 TAP1 TAP2 TAPBP
4 integral component of endoplasmic reticulum membrane GO:0030176 9.32 TAP1 TAP2
5 TAP complex GO:0042825 9.26 TAP1 TAP2
6 phagocytic vesicle membrane GO:0030670 9.26 B2M TAP1 TAP2 TAPBP
7 MHC class I peptide loading complex GO:0042824 8.8 TAP1 TAP2 TAPBP

Biological processes related to Immunodeficiency by Defective Expression of Hla Class 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.61 B2M TAP1 TAP2
2 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 9.46 B2M TAP1 TAP2 TAPBP
3 vesicle fusion with endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membrane GO:1990668 9.43 TAP1 TAP2 TAPBP
4 peptide transport GO:0015833 9.4 TAP1 TAP2
5 amide transport GO:0042886 9.37 TAP1 TAPBP
6 cytosol to ER transport GO:0046967 9.32 TAP1 TAP2
7 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent GO:0002479 9.26 B2M TAP1 TAP2 TAPBP
8 antigen processing and presentation of endogenous peptide antigen via MHC class I GO:0019885 8.92 B2M TAP1 TAP2 TAPBP

Molecular functions related to Immunodeficiency by Defective Expression of Hla Class 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATPase activity GO:0016887 9.48 TAP1 TAP2
2 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.46 TAP1 TAP2
3 peptide antigen binding GO:0042605 9.43 TAP1 TAPBP
4 MHC class I protein binding GO:0042288 9.4 TAP1 TAPBP
5 MHC protein binding GO:0042287 9.37 TAP1 TAP2
6 peptide transmembrane transporter activity GO:1904680 9.32 TAP1 TAP2
7 MHC class Ib protein binding GO:0023029 9.26 TAP1 TAP2
8 TAP2 binding GO:0046979 9.16 TAP1 TAPBP
9 TAP1 binding GO:0046978 9.13 TAP1 TAP2 TAPBP
10 peptide antigen-transporting ATPase activity GO:0015433 8.8 TAP1 TAP2 TAPBP

Sources for Immunodeficiency by Defective Expression of Hla Class 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....