CD8 DEFICIENCY
MCID: CD8002
MIFTS: 31

Cd8 Deficiency, Familial (CD8 DEFICIENCY)

Categories: Blood diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Cd8 Deficiency, Familial

MalaCards integrated aliases for Cd8 Deficiency, Familial:

Name: Cd8 Deficiency, Familial 56 73 29 13 6 39 71
Susceptibility to Respiratory Infections Associated with Cd8alpha Chain Mutation 58
Familial Cd8 Deficiency 58
Cd8 Deficiency 73

Characteristics:

Orphanet epidemiological data:

58
susceptibility to respiratory infections associated with cd8alpha chain mutation
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
may be asymptomatic


HPO:

31
cd8 deficiency, familial:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

OMIM 56 608957
MeSH 43 D007153
ICD10 via Orphanet 33 D84.8
UMLS via Orphanet 72 C1837065
Orphanet 58 ORPHA169085
MedGen 41 C1837065
SNOMED-CT via HPO 68 12295008 258211005 428875002
UMLS 71 C1837065

Summaries for Cd8 Deficiency, Familial

UniProtKB/Swiss-Prot : 73 CD8 deficiency, familial: An immunologic defect characterized by absence of CD8+ cells, leading to recurrent bacterial infections.

MalaCards based summary : Cd8 Deficiency, Familial, also known as susceptibility to respiratory infections associated with cd8alpha chain mutation, is related to bacterial infectious disease and zap70-related combined immunodeficiency. An important gene associated with Cd8 Deficiency, Familial is CD8A (CD8a Molecule), and among its related pathways/superpathways are TCR Signaling (Qiagen) and T cell receptor signaling pathway. Affiliated tissues include t cells, and related phenotypes are recurrent respiratory infections and bronchiectasis

More information from OMIM: 608957

Related Diseases for Cd8 Deficiency, Familial

Graphical network of the top 20 diseases related to Cd8 Deficiency, Familial:



Diseases related to Cd8 Deficiency, Familial

Symptoms & Phenotypes for Cd8 Deficiency, Familial

Human phenotypes related to Cd8 Deficiency, Familial:

31
# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 31 HP:0002205
2 bronchiectasis 31 HP:0002110
3 recurrent bacterial infections 31 HP:0002718
4 recurrent viral infections 31 HP:0004429
5 absence of cd8-positive t cells 31 HP:0005422

Symptoms via clinical synopsis from OMIM:

56
Immunology:
recurrent bacterial infections
recurrent viral infections
isolated absence of cd8+ t cells

Respiratory Lung:
recurrent bacterial respiratory infections
bronchiectases

Clinical features from OMIM:

608957

Drugs & Therapeutics for Cd8 Deficiency, Familial

Search Clinical Trials , NIH Clinical Center for Cd8 Deficiency, Familial

Genetic Tests for Cd8 Deficiency, Familial

Genetic tests related to Cd8 Deficiency, Familial:

# Genetic test Affiliating Genes
1 Cd8 Deficiency, Familial 29 CD8A

Anatomical Context for Cd8 Deficiency, Familial

MalaCards organs/tissues related to Cd8 Deficiency, Familial:

40
T Cells

Publications for Cd8 Deficiency, Familial

Articles related to Cd8 Deficiency, Familial:

# Title Authors PMID Year
1
Familial CD8 deficiency due to a mutation in the CD8 alpha gene. 6 56 61
11435463 2001

Variations for Cd8 Deficiency, Familial

ClinVar genetic disease variations for Cd8 Deficiency, Familial:

6 (show all 38) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CD8A NM_001768.6(CD8A):c.331G>A (p.Gly111Ser)SNV Pathogenic 12742 rs121918660 2:87017523-87017523 2:86790400-86790400
2 ZAP70 NM_001079.3(ZAP70):c.1714A>T (p.Met572Leu)SNV Pathogenic 38913 rs113994175 2:98354548-98354548 2:97738085-97738085
3 ZAP70 NM_001079.3(ZAP70):c.239C>A (p.Pro80Gln)SNV Pathogenic 38914 rs113994172 2:98340738-98340738 2:97724275-97724275
4 CD8A NM_001768.6(CD8A):c.362C>G (p.Ser121Cys)SNV Uncertain significance 576642 rs1558735534 2:87017492-87017492 2:86790369-86790369
5 CD8A NM_001768.6(CD8A):c.702del (p.Arg233_Tyr234insTer)deletion Uncertain significance 626081 rs747233306 2:87013049-87013049 2:86785926-86785926
6 CD8A NM_171827.3(CD8A):c.514+315A>TSNV Uncertain significance 625911 rs146994832 2:87016448-87016448 2:86789325-86789325
7 CD8A NM_001768.6(CD8A):c.569C>A (p.Ala190Asp)SNV Uncertain significance 645068 2:87016502-87016502 2:86789379-86789379
8 CD8A NM_001768.6(CD8A):c.494G>C (p.Arg165Pro)SNV Uncertain significance 648401 2:87016783-87016783 2:86789660-86789660
9 CD8A NM_001768.6(CD8A):c.410C>T (p.Pro137Leu)SNV Uncertain significance 652854 2:87016867-87016867 2:86789744-86789744
10 CD8A NM_001768.6(CD8A):c.367_370delinsCTGAGCA (p.Met123_Tyr124delinsLeuSerAsn)indel Uncertain significance 649582 2:87017484-87017487 2:86790361-86790364
11 CD8A NM_001768.6(CD8A):c.337T>A (p.Tyr113Asn)SNV Uncertain significance 644495 2:87017517-87017517 2:86790394-86790394
12 CD8A NM_001768.6(CD8A):c.403+4C>GSNV Uncertain significance 639504 2:87017447-87017447 2:86790324-86790324
13 CD8A NC_000002.12:g.(?_86785900)_(86790845_?)deldeletion Uncertain significance 832275 2:87013023-87017968
14 CD8A NC_000002.12:g.(?_86785900)_(86790845_?)dupduplication Uncertain significance 833270 2:87013023-87017968
15 CD8A NM_001768.7(CD8A):c.568G>A (p.Ala190Thr)SNV Uncertain significance 842472 2:87016503-87016503 2:86789380-86789380
16 CD8A NM_001768.7(CD8A):c.547A>G (p.Ile183Val)SNV Uncertain significance 841531 2:87016524-87016524 2:86789401-86789401
17 CD8A NM_001768.7(CD8A):c.524G>C (p.Arg175Thr)SNV Uncertain significance 836144 2:87016547-87016547 2:86789424-86789424
18 CD8A NM_001768.7(CD8A):c.394T>G (p.Phe132Val)SNV Uncertain significance 859339 2:87017460-87017460 2:86790337-86790337
19 CD8A NM_001768.7(CD8A):c.379C>T (p.His127Tyr)SNV Uncertain significance 854487 2:87017475-87017475 2:86790352-86790352
20 CD8A NM_001768.7(CD8A):c.279G>T (p.Arg93Ser)SNV Uncertain significance 843539 2:87017575-87017575 2:86790452-86790452
21 CD8A NM_001768.7(CD8A):c.241G>A (p.Ala81Thr)SNV Uncertain significance 847779 2:87017613-87017613 2:86790490-86790490
22 CD8A NM_001768.7(CD8A):c.224A>T (p.Gln75Leu)SNV Uncertain significance 836152 2:87017630-87017630 2:86790507-86790507
23 CD8A NM_001768.7(CD8A):c.104T>A (p.Leu35Gln)SNV Uncertain significance 846392 2:87017750-87017750 2:86790627-86790627
24 CD8A NM_001768.7(CD8A):c.63_64delinsTG (p.Ser22Gly)indel Uncertain significance 846965 2:87017790-87017791 2:86790667-86790668
25 CD8A NM_001768.7(CD8A):c.8T>C (p.Leu3Ser)SNV Uncertain significance 837869 2:87017941-87017941 2:86790818-86790818
26 CD8A NM_001768.6(CD8A):c.46C>T (p.Leu16Phe)SNV Likely benign 720274 2:87017903-87017903 2:86790780-86790780
27 CD8A NM_001768.6(CD8A):c.657-8T>CSNV Likely benign 748234 2:87013102-87013102 2:86785979-86785979
28 CD8A NM_001768.6(CD8A):c.165G>C (p.Ser55=)SNV Likely benign 753112 2:87017689-87017689 2:86790566-86790566
29 CD8A NM_001768.6(CD8A):c.504G>A (p.Ala168=)SNV Likely benign 533087 rs1322717095 2:87016773-87016773 2:86789650-86789650
30 CD8A NM_001768.6(CD8A):c.404-10G>CSNV Likely benign 464447 rs746824602 2:87016883-87016883 2:86789760-86789760
31 CD8A NM_001768.6(CD8A):c.514+7C>GSNV Likely benign 757741 2:87016756-87016756 2:86789633-86789633
32 CD8A NM_001768.6(CD8A):c.298C>T (p.Leu100Phe)SNV Benign 464446 rs79392961 2:87017556-87017556 2:86790433-86790433
33 CD8A NM_001768.6(CD8A):c.515-6C>TSNV Benign 464449 rs139743836 2:87016562-87016562 2:86789439-86789439
34 CD8A NM_001768.6(CD8A):c.447G>A (p.Ala149=)SNV Benign 464448 rs115370220 2:87016830-87016830 2:86789707-86789707
35 CD8A NM_001768.6(CD8A):c.153G>T (p.Thr51=)SNV Benign 464445 rs147048705 2:87017701-87017701 2:86790578-86790578
36 CD8A NM_001768.6(CD8A):c.405G>A (p.Ala135=)SNV Benign 533086 rs77254522 2:87016872-87016872 2:86789749-86789749
37 CD8A NM_001768.6(CD8A):c.171C>T (p.Leu57=)SNV Benign 533088 rs181102668 2:87017683-87017683 2:86790560-86790560
38 CD8A NM_001768.6(CD8A):c.139C>T (p.Leu47=)SNV Benign 753808 2:87017715-87017715 2:86790592-86790592

UniProtKB/Swiss-Prot genetic disease variations for Cd8 Deficiency, Familial:

73
# Symbol AA change Variation ID SNP ID
1 CD8A p.Gly111Ser VAR_021020 rs121918660

Expression for Cd8 Deficiency, Familial

Search GEO for disease gene expression data for Cd8 Deficiency, Familial.

Pathways for Cd8 Deficiency, Familial

Pathways related to Cd8 Deficiency, Familial according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.18 ZAP70 CD8A
2
Show member pathways
11.91 ZAP70 CD8A
3 11.84 ZAP70 CD8A
4
Show member pathways
11.29 ZAP70 CD8A
5 11.01 ZAP70 CD8A
6 10.54 ZAP70 CD8A
7 10.11 ZAP70 CD8A

GO Terms for Cd8 Deficiency, Familial

Cellular components related to Cd8 Deficiency, Familial according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 T cell receptor complex GO:0042101 8.62 ZAP70 CD8A

Biological processes related to Cd8 Deficiency, Familial according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.32 ZAP70 CD8A
2 immune response GO:0006955 9.26 ZAP70 CD8A
3 adaptive immune response GO:0002250 9.16 ZAP70 CD8A
4 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 8.96 ZAP70 CD8A
5 T cell activation GO:0042110 8.62 ZAP70 CD8A

Sources for Cd8 Deficiency, Familial

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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