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 58
Bare Lymphocyte Syndrome Type 1 58 29 6 39
Mhc Class I Deficiency 58

Characteristics:

Orphanet epidemiological data:

58
immunodeficiency by defective expression of mhc class i
Inheritance: Autosomal recessive; Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

ICD10 via Orphanet 33 D81.6
UMLS via Orphanet 72 C1858266
Orphanet 58 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. Affiliated tissues include lung, and 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 20)
# Related Disease Score Top Affiliating Genes
1 bare lymphocyte syndrome, type i 30.8 TAPBP TAP2 TAP1 B2M
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 posterior uveal melanoma 9.7 TAP2 TAP1
16 spondylitis 9.5 TAP2 TAP1
17 herpes simplex 9.4 TAP2 TAP1
18 diabetes mellitus, insulin-dependent 9.3 TAP2 TAP1 B2M
19 diabetes mellitus 9.2 TAP2 TAP1 B2M
20 spondyloarthropathy 1 9.1 TAPBP TAP2 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:

45
# 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

Anatomical Context for Immunodeficiency by Defective Expression of Mhc Class I

MalaCards organs/tissues related to Immunodeficiency by Defective Expression of Mhc Class I:

40
Lung

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. 6
12149238 2002
2
Association of a syndrome resembling Wegener's granulomatosis with low surface expression of HLA class-I molecules. 6
10560675 1999
3
Splice acceptor site mutation of the transporter associated with antigen processing-1 gene in human bare lymphocyte syndrome. 6
10074494 1999
4
Homozygous human TAP peptide transporter mutation in HLA class I deficiency. 6
7517574 1994
5
Defective expression of HLA class I antigens: a case of the bare lymphocyte without immunodeficiency. 6
3891604 1985
6
Mouse strains with point mutations in TAP1 and TAP2. 61
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 101) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TAPBP TAPBP, 7.4-KB DELdeletion Pathogenic 7606
2 TAP2 NM_000544.3(TAP2):c.817C>T (p.Arg273Ter)SNV Pathogenic 13727 6:32803059-32803059 6:32835282-32835282
3 TAP2 TAP2, 1-BP DELdeletion Pathogenic 13728
4 TAP1 TAP1, IVS1, G-A, -1SNV Pathogenic 13732
5 TAP2 NM_000544.3(TAP2):c.958del (p.Glu320fs)deletion Pathogenic 571072 rs1562331529 6:32800589-32800589 6:32832812-32832812
6 TAP1 NM_000593.5(TAP1):c.1151C>G (p.Ser384Ter)SNV Pathogenic 642101 6:32818800-32818800 6:32851023-32851023
7 TAP2 NM_000544.3(TAP2):c.217_218del (p.Thr73fs)deletion Likely pathogenic 626224 rs1321880935 6:32805793-32805794 6:32838016-32838017
8 TAP2 NM_000544.3(TAP2):c.1272+1G>ASNV Likely pathogenic 534707 rs1222208628 6:32800109-32800109 6:32832332-32832332
9 TAPBP NM_003190.4(TAPBP):c.591G>A (p.Pro197=)SNV Conflicting interpretations of pathogenicity 626175 rs200497341 6:33273043-33273043 6:33305266-33305266
10 TAP1 NM_000593.5(TAP1):c.289C>T (p.Arg97Trp)SNV Uncertain significance 654569 6:32821305-32821305 6:32853528-32853528
11 TAP1 NM_000593.5(TAP1):c.184G>A (p.Ala62Thr)SNV Uncertain significance 665818 6:32821410-32821410 6:32853633-32853633
12 TAP1 NM_000593.5(TAP1):c.73C>T (p.Pro25Ser)SNV Uncertain significance 640487 6:32821521-32821521 6:32853744-32853744
13 TAPBP NM_003190.4(TAPBP):c.1046T>C (p.Leu349Pro)SNV Uncertain significance 639896 6:33272238-33272238 6:33304461-33304461
14 TAPBP NM_003190.4(TAPBP):c.1001G>A (p.Gly334Asp)SNV Uncertain significance 665431 6:33272283-33272283 6:33304506-33304506
15 TAPBP NM_003190.4(TAPBP):c.974G>A (p.Gly325Asp)SNV Uncertain significance 661409 6:33272310-33272310 6:33304533-33304533
16 TAPBP NM_003190.4(TAPBP):c.932C>T (p.Pro311Leu)SNV Uncertain significance 661969 6:33272352-33272352 6:33304575-33304575
17 TAPBP NM_003190.4(TAPBP):c.872C>A (p.Pro291His)SNV Uncertain significance 651374 6:33272412-33272412 6:33304635-33304635
18 TAPBP NM_003190.4(TAPBP):c.601C>T (p.Pro201Ser)SNV Uncertain significance 661809 6:33273033-33273033 6:33305256-33305256
19 TAPBP NM_003190.4(TAPBP):c.562A>G (p.Thr188Ala)SNV Uncertain significance 657524 6:33273072-33273072 6:33305295-33305295
20 TAPBP NM_003190.4(TAPBP):c.556C>T (p.Pro186Ser)SNV Uncertain significance 648764 6:33273078-33273078 6:33305301-33305301
21 TAPBP NM_003190.5(TAPBP):c.312del (p.Lys104fs)deletion Uncertain significance 656048 6:33281151-33281151 6:33313374-33313374
22 TAP2 NM_000544.3(TAP2):c.1933-6_1933-3deldeletion Uncertain significance 657703 6:32796814-32796817 6:32829037-32829040
23 TAPBP NM_003190.4(TAPBP):c.129_470-3609deldeletion Uncertain significance 646471 6:33308996-33313773
24 TAP1 NM_000593.5(TAP1):c.2220+6G>ASNV Uncertain significance 640506 6:32814839-32814839 6:32847062-32847062
25 TAP1 NM_000593.5(TAP1):c.1558-4C>GSNV Uncertain significance 655699 6:32816621-32816621 6:32848844-32848844
26 TAPBP NM_003190.4(TAPBP):c.1300+3_1300+6deldeletion Uncertain significance 649689 6:33271899-33271902 6:33304122-33304125
27 TAP2 NM_000544.3(TAP2):c.359G>T (p.Ser120Ile)SNV Uncertain significance 534701 rs932756573 6:32805652-32805652 6:32837875-32837875
28 TAP1 NM_000593.5(TAP1):c.496_516dup (p.Ala166_Leu172dup)duplication Uncertain significance 534704 rs1311169361 6:32821077-32821078 6:32853300-32853301
29 TAP2 NM_000544.3(TAP2):c.1776G>A (p.Met592Ile)SNV Uncertain significance 534713 rs147150415 6:32797726-32797726 6:32829949-32829949
30 TAP2 NM_000544.3(TAP2):c.656C>T (p.Ser219Phe)SNV Uncertain significance 534711 rs1554235670 6:32803503-32803503 6:32835726-32835726
31 TAP1 NM_000593.5(TAP1):c.1313G>A (p.Arg438Gln)SNV Uncertain significance 466379 rs373810087 6:32818212-32818212 6:32850435-32850435
32 TAP1 NM_000593.5(TAP1):c.122C>T (p.Pro41Leu)SNV Uncertain significance 466376 rs554237124 6:32821472-32821472 6:32853695-32853695
33 TAPBP NM_003190.4(TAPBP):c.1181G>A (p.Arg394His)SNV Uncertain significance 466395 rs763198738 6:33272103-33272103 6:33304326-33304326
34 TAPBP NM_003190.4(TAPBP):c.464C>G (p.Ala155Gly)SNV Uncertain significance 466398 rs747106102 6:33280999-33280999 6:33313222-33313222
35 TAP2 NM_000544.3(TAP2):c.1909C>A (p.Leu637Ile)SNV Uncertain significance 466370 rs752068310 6:32797200-32797200 6:32829423-32829423
36 TAP1 NM_000593.5(TAP1):c.2399T>C (p.Val800Ala)SNV Uncertain significance 466387 rs1554242514 6:32813384-32813384 6:32845607-32845607
37 TAP1 NM_000593.5(TAP1):c.989G>A (p.Arg330His)SNV Uncertain significance 466394 rs140245535 6:32819921-32819921 6:32852144-32852144
38 TAP1 NM_000593.5(TAP1):c.919G>A (p.Gly307Arg)SNV Uncertain significance 466392 rs59328013 6:32819991-32819991 6:32852214-32852214
39 TAPBP NM_003190.4(TAPBP):c.562A>T (p.Thr188Ser)SNV Uncertain significance 466399 rs561629511 6:33273072-33273072 6:33305295-33305295
40 TAP1 NM_000593.5(TAP1):c.1300A>T (p.Met434Leu)SNV Uncertain significance 466378 rs779844691 6:32818225-32818225 6:32850448-32850448
41 TAP2 NM_000544.3(TAP2):c.818G>A (p.Arg273Gln)SNV Uncertain significance 642994 6:32803058-32803058 6:32835281-32835281
42 TAP2 NM_000544.3(TAP2):c.2005G>A (p.Ala669Thr)SNV Uncertain significance 641118 6:32796739-32796739 6:32828962-32828962
43 TAP2 NM_000544.3(TAP2):c.1852G>T (p.Ala618Ser)SNV Uncertain significance 649505 6:32797257-32797257 6:32829480-32829480
44 TAP2 NM_000544.3(TAP2):c.1769A>G (p.Gln590Arg)SNV Uncertain significance 664292 6:32797733-32797733 6:32829956-32829956
45 TAP2 NM_000544.3(TAP2):c.1720G>A (p.Asp574Asn)SNV Uncertain significance 661661 6:32797782-32797782 6:32830005-32830005
46 TAP2 NM_000544.3(TAP2):c.1714G>A (p.Glu572Lys)SNV Uncertain significance 639852 6:32797788-32797788 6:32830011-32830011
47 TAP2 NM_000544.3(TAP2):c.1655A>G (p.Glu552Gly)SNV Uncertain significance 640861 6:32797847-32797847 6:32830070-32830070
48 TAP2 NM_000544.3(TAP2):c.1373C>T (p.Thr458Met)SNV Uncertain significance 641651 6:32798483-32798483 6:32830706-32830706
49 TAP2 NM_000544.3(TAP2):c.100G>A (p.Gly34Arg)SNV Uncertain significance 643299 6:32805911-32805911 6:32838134-32838134
50 TAP1 NM_000593.5(TAP1):c.2005A>G (p.Met669Val)SNV Uncertain significance 644588 6:32815368-32815368 6:32847591-32847591

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

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

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.39 TAPBP TAP2 TAP1 B2M
2
Show member pathways
12.91 TAPBP TAP2 TAP1 B2M
3
Show member pathways
12.46 TAPBP TAP2 TAP1 B2M
4
Show member pathways
12.36 TAPBP TAP2 TAP1 B2M
5
Show member pathways
12.26 TAPBP TAP2 TAP1 B2M
6 12.15 TAPBP TAP2 TAP1 B2M
7 12.09 TAP2 TAP1 B2M
8
Show member pathways
11.7 TAPBP TAP2 TAP1 B2M
9 11.66 TAP2 TAP1
10 11.04 TAP2 TAP1
11 10.32 TAPBP TAP2 TAP1 B2M

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 membrane GO:0005789 9.54 TAPBP TAP2 TAP1
2 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0033116 9.43 TAPBP TAP2 TAP1
3 integral component of endoplasmic reticulum membrane GO:0030176 9.32 TAP2 TAP1
4 phagocytic vesicle membrane GO:0030670 9.26 TAPBP TAP2 TAP1 B2M
5 TAP complex GO:0042825 9.16 TAP2 TAP1
6 MHC class I peptide loading complex GO:0042824 8.92 TAPBP TAP2 TAP1 B2M

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 exogenous peptide antigen via MHC class I, TAP-dependent GO:0002479 9.56 TAPBP TAP2 TAP1 B2M
3 peptide transport GO:0015833 9.5 TAPBP TAP2 TAP1
4 cytosol to ER transport GO:0046967 9.37 TAP2 TAP1
5 vesicle fusion with endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membrane GO:1990668 9.33 TAPBP TAP2 TAP1
6 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 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:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 ATPase activity GO:0016887 9.49 TAP2 TAP1
2 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.48 TAP2 TAP1
3 peptide antigen binding GO:0042605 9.46 TAPBP TAP1
4 MHC class I protein binding GO:0042288 9.43 TAPBP TAP1
5 MHC protein binding GO:0042287 9.4 TAP2 TAP1
6 peptide transmembrane transporter activity GO:1904680 9.37 TAP2 TAP1
7 MHC class Ib protein binding GO:0023029 9.32 TAP2 TAP1
8 peptide-transporting ATPase activity GO:0015440 9.26 TAP2 TAP1
9 TAP2 binding GO:0046979 9.16 TAPBP TAP1
10 TAP1 binding GO:0046978 9.13 TAPBP TAP2 TAP1
11 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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