MCID: IMM212
MIFTS: 31

Immunodeficiency by Defective Expression of Mhc Class I

Categories: Blood diseases, Immune diseases, Rare diseases

Aliases & Classifications for Immunodeficiency by Defective Expression of Mhc Class I

MalaCards integrated aliases for Immunodeficiency by Defective Expression of Mhc Class I:

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

Characteristics:

Orphanet epidemiological data:

59
immunodeficiency by defective expression of mhc class i
Inheritance: Autosomal recessive; Age of onset: Childhood;

Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

ICD10 via Orphanet 34 D81.6
UMLS via Orphanet 73 C1858266
Orphanet 59 ORPHA34592

Summaries for Immunodeficiency by Defective Expression of Mhc Class I

MalaCards based summary : Immunodeficiency by Defective Expression of Mhc Class I, also known as bare lymphocyte syndrome type 1, is related to bare lymphocyte syndrome, type i and fibrosarcoma. An important gene associated with Immunodeficiency by Defective Expression of Mhc Class I is TAP1 (Transporter 1, 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 Mhc Class I

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

(show all 18)
# Related Disease Score Top Affiliating Genes
1 bare lymphocyte syndrome, type i 31.2 TAPBP TAP2 TAP1
2 fibrosarcoma 10.2
3 systemic lupus erythematosus 9.9
4 suppressor of tumorigenicity 3 9.9
5 aminopterin syndrome sine aminopterin 9.9
6 lung cancer susceptibility 3 9.9
7 graft-versus-host disease 9.9
8 neutropenia 9.9
9 squamous cell papilloma 9.9
10 melanoma 9.9
11 hepatitis b 9.9
12 papilloma 9.9
13 lupus erythematosus 9.9
14 idiopathic bronchiectasis 9.7 TAP2 TAP1
15 herpes simplex 9.7 TAP2 TAP1
16 orbital melanoma 9.5 TAPBP TAP1
17 spondylitis 9.4 TAP2 TAP1
18 spondyloarthropathy 1 9.4 TAPBP B2M

Graphical network of the top 20 diseases related to Immunodeficiency by Defective Expression of Mhc Class I:



Diseases related to Immunodeficiency by Defective Expression of Mhc Class I

Symptoms & Phenotypes for Immunodeficiency by Defective Expression of Mhc Class I

MGI Mouse Phenotypes related to Immunodeficiency by Defective Expression of Mhc Class I:

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 Mhc Class I

Search Clinical Trials , NIH Clinical Center for Immunodeficiency by Defective Expression of Mhc Class I

Genetic Tests for Immunodeficiency by Defective Expression of Mhc Class I

Genetic tests related to Immunodeficiency by Defective Expression of Mhc Class I:

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

Anatomical Context for Immunodeficiency by Defective Expression of Mhc Class I

Publications for Immunodeficiency by Defective Expression of Mhc Class I

Articles related to Immunodeficiency by Defective Expression of Mhc Class I:

# Title Authors PMID Year
1
A subject with a novel type I bare lymphocyte syndrome has tapasin deficiency due to deletion of 4 exons by Alu-mediated recombination. 71
12149238 2002
2
Association of a syndrome resembling Wegener's granulomatosis with low surface expression of HLA class-I molecules. 71
10560675 1999
3
Splice acceptor site mutation of the transporter associated with antigen processing-1 gene in human bare lymphocyte syndrome. 71
10074494 1999
4
Homozygous human TAP peptide transporter mutation in HLA class I deficiency. 71
7517574 1994
5
Defective expression of HLA class I antigens: a case of the bare lymphocyte without immunodeficiency. 71
3891604 1985
6
Mouse strains with point mutations in TAP1 and TAP2. 38
19721454 2010

Variations for Immunodeficiency by Defective Expression of Mhc Class I

ClinVar genetic disease variations for Immunodeficiency by Defective Expression of Mhc Class I:

6 (show top 50) (show all 143)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TAP1 TAP1, IVS1, G-A, -1 single nucleotide variant Pathogenic
2 TAP2 NM_000544.3(TAP2): c.958del (p.Glu320fs) deletion Pathogenic 6:32800589-32800589 6:32832812-32832812
3 TAP1 NM_000593.5(TAP1): c.1151C> G (p.Ser384Ter) single nucleotide variant Pathogenic 6:32818800-32818800 6:32851023-32851023
4 TAPBP TAPBP, 7.4-KB DEL deletion Pathogenic
5 TAP2 TAP2, ARG253TER single nucleotide variant Pathogenic
6 TAP2 TAP2, 1-BP DEL deletion Pathogenic
7 TAP2 NM_000544.3(TAP2): c.217_218del (p.Thr73fs) deletion Likely pathogenic 6:32805793-32805794 6:32838016-32838017
8 TAP2 NM_000544.3(TAP2): c.1272+1G> A single nucleotide variant Likely pathogenic rs1222208628 6:32800109-32800109 6:32832332-32832332
9 TAP1 NM_000593.5(TAP1): c.1727C> T (p.Pro576Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs2228106 6:32816448-32816448 6:32848671-32848671
10 TAP1 NM_000593.5(TAP1): c.1231-3C> T single nucleotide variant Conflicting interpretations of pathogenicity rs56366814 6:32818297-32818297 6:32850520-32850520
11 TAP2 NM_000544.3(TAP2): c.656C> T (p.Ser219Phe) single nucleotide variant Uncertain significance rs1554235670 6:32803503-32803503 6:32835726-32835726
12 TAPBP NM_003190.4(TAPBP): c.1258G> A (p.Ala420Thr) single nucleotide variant Uncertain significance rs1382572674 6:33271947-33271947 6:33304170-33304170
13 TAPBP NM_003190.4(TAPBP): c.845del (p.Val282fs) deletion Uncertain significance rs765712832 6:33272789-33272789 6:33305012-33305012
14 TAPBP NM_003190.4(TAPBP): c.161C> T (p.Pro54Leu) single nucleotide variant Uncertain significance rs139155669 6:33281518-33281518 6:33313741-33313741
15 TAP1 NM_000593.5(TAP1): c.1383C> G (p.Asn461Lys) single nucleotide variant Uncertain significance rs756823000 6:32818142-32818142 6:32850365-32850365
16 TAP1 NM_000593.5(TAP1): c.1157C> A (p.Ser386Tyr) single nucleotide variant Uncertain significance rs779346609 6:32818794-32818794 6:32851017-32851017
17 TAP1 NM_000593.5(TAP1): c.590C> G (p.Pro197Arg) single nucleotide variant Uncertain significance rs1010241068 6:32821004-32821004 6:32853227-32853227
18 TAP2 NM_000544.3(TAP2): c.848G> C (p.Gly283Ala) single nucleotide variant Uncertain significance rs1278521116 6:32803028-32803028 6:32835251-32835251
19 TAPBP NM_003190.4(TAPBP): c.369G> A (p.Trp123Ter) single nucleotide variant Uncertain significance rs1554279286 6:33281094-33281094 6:33313317-33313317
20 TAP1 NM_000593.5(TAP1): c.496_516dup (p.Ala166_Leu172dup) duplication Uncertain significance rs1311169361 6:32821078-32821098 6:32853301-32853321
21 TAP2 NM_000544.3(TAP2): c.1776G> A (p.Met592Ile) single nucleotide variant Uncertain significance rs147150415 6:32797726-32797726 6:32829949-32829949
22 TAP2 NM_000544.3(TAP2): c.359G> T (p.Ser120Ile) single nucleotide variant Uncertain significance rs932756573 6:32805652-32805652 6:32837875-32837875
23 TAP1 NM_000593.5(TAP1): c.919G> A (p.Gly307Arg) single nucleotide variant Uncertain significance rs59328013 6:32819991-32819991 6:32852214-32852214
24 TAPBP NM_003190.4(TAPBP): c.562A> T (p.Thr188Ser) single nucleotide variant Uncertain significance rs561629511 6:33273072-33273072 6:33305295-33305295
25 TAP1 NM_000593.5(TAP1): c.1300A> T (p.Met434Leu) single nucleotide variant Uncertain significance rs779844691 6:32818225-32818225 6:32850448-32850448
26 TAP1 NM_000593.5(TAP1): c.122C> T (p.Pro41Leu) single nucleotide variant Uncertain significance rs554237124 6:32821472-32821472 6:32853695-32853695
27 TAPBP NM_003190.4(TAPBP): c.1181G> A (p.Arg394His) single nucleotide variant Uncertain significance rs763198738 6:33272103-33272103 6:33304326-33304326
28 TAPBP NM_003190.4(TAPBP): c.464C> G (p.Ala155Gly) single nucleotide variant Uncertain significance rs747106102 6:33280999-33280999 6:33313222-33313222
29 TAP1 NM_000593.5(TAP1): c.1313G> A (p.Arg438Gln) single nucleotide variant Uncertain significance rs373810087 6:32818212-32818212 6:32850435-32850435
30 TAP2 NM_000544.3(TAP2): c.1909C> A (p.Leu637Ile) single nucleotide variant Uncertain significance rs752068310 6:32797200-32797200 6:32829423-32829423
31 TAP1 NM_000593.5(TAP1): c.2399T> C (p.Val800Ala) single nucleotide variant Uncertain significance rs1554242514 6:32813384-32813384 6:32845607-32845607
32 TAP1 NM_000593.5(TAP1): c.989G> A (p.Arg330His) single nucleotide variant Uncertain significance rs140245535 6:32819921-32819921 6:32852144-32852144
33 TAP2 NM_000544.3(TAP2): c.1852G> T (p.Ala618Ser) single nucleotide variant Uncertain significance 6:32797257-32797257 6:32829480-32829480
34 TAP2 NM_000544.3(TAP2): c.2005G> A (p.Ala669Thr) single nucleotide variant Uncertain significance 6:32796739-32796739 6:32828962-32828962
35 TAP2 NM_000544.3(TAP2): c.1769A> G (p.Gln590Arg) single nucleotide variant Uncertain significance 6:32797733-32797733 6:32829956-32829956
36 TAP2 NM_000544.3(TAP2): c.1720G> A (p.Asp574Asn) single nucleotide variant Uncertain significance 6:32797782-32797782 6:32830005-32830005
37 TAP2 NM_000544.3(TAP2): c.1714G> A (p.Glu572Lys) single nucleotide variant Uncertain significance 6:32797788-32797788 6:32830011-32830011
38 TAP2 NM_000544.3(TAP2): c.1655A> G (p.Glu552Gly) single nucleotide variant Uncertain significance 6:32797847-32797847 6:32830070-32830070
39 TAP2 NM_000544.3(TAP2): c.1373C> T (p.Thr458Met) single nucleotide variant Uncertain significance 6:32798483-32798483 6:32830706-32830706
40 TAP2 NM_000544.3(TAP2): c.818G> A (p.Arg273Gln) single nucleotide variant Uncertain significance 6:32803058-32803058 6:32835281-32835281
41 TAP2 NM_000544.3(TAP2): c.100G> A (p.Gly34Arg) single nucleotide variant Uncertain significance 6:32805911-32805911 6:32838134-32838134
42 TAP1 NM_000593.5(TAP1): c.2005A> G (p.Met669Val) single nucleotide variant Uncertain significance 6:32815368-32815368 6:32847591-32847591
43 TAP1 NM_000593.5(TAP1): c.1637C> T (p.Pro546Leu) single nucleotide variant Uncertain significance 6:32816538-32816538 6:32848761-32848761
44 TAP1 NM_000593.5(TAP1): c.1534A> G (p.Met512Val) single nucleotide variant Uncertain significance 6:32816790-32816790 6:32849013-32849013
45 TAP1 NM_000593.5(TAP1): c.2156G> A (p.Arg719Gln) single nucleotide variant Uncertain significance rs121917702 6:32814909-32814909 6:32847132-32847132
46 TAPBP NM_003190.4(TAPBP): c.591G> A (p.Pro197=) single nucleotide variant Uncertain significance 6:33273043-33273043 6:33305266-33305266
47 TAP1 NM_000593.5(TAP1): c.289C> T (p.Arg97Trp) single nucleotide variant Uncertain significance 6:32821305-32821305 6:32853528-32853528
48 TAP1 NM_000593.5(TAP1): c.184G> A (p.Ala62Thr) single nucleotide variant Uncertain significance 6:32821410-32821410 6:32853633-32853633
49 TAP1 NM_000593.5(TAP1): c.73C> T (p.Pro25Ser) single nucleotide variant Uncertain significance 6:32821521-32821521 6:32853744-32853744
50 TAPBP NM_003190.4(TAPBP): c.1046T> C (p.Leu349Pro) single nucleotide variant Uncertain significance 6:33272238-33272238 6:33304461-33304461

Expression for Immunodeficiency by Defective Expression of Mhc Class I

Search GEO for disease gene expression data for Immunodeficiency by Defective Expression of Mhc Class I.

Pathways for Immunodeficiency by Defective Expression of Mhc Class I

GO Terms for Immunodeficiency by Defective Expression of Mhc Class I

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

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

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

# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.58 TAP2 TAP1 B2M
2 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 9.46 TAPBP TAP2 TAP1 B2M
3 vesicle fusion with endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membrane GO:1990668 9.43 TAPBP TAP2 TAP1
4 peptide transport GO:0015833 9.37 TAP2 TAP1
5 cytosol to ER transport GO:0046967 9.32 TAP2 TAP1
6 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent GO:0002479 9.26 TAPBP TAP2 TAP1 B2M
7 antigen processing and presentation of endogenous peptide antigen via MHC class I GO:0019885 8.92 TAPBP TAP2 TAP1 B2M

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

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

Sources for Immunodeficiency by Defective Expression of Mhc Class I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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