CD8 DEFICIENCY
MCID: CD8002
MIFTS: 30

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 57 74 29 13 6 40 72
Susceptibility to Respiratory Infections Associated with Cd8alpha Chain Mutation 59
Familial Cd8 Deficiency 59
Cd8 Deficiency 74

Characteristics:

Orphanet epidemiological data:

59
susceptibility to respiratory infections associated with cd8alpha chain mutation
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
may be asymptomatic


HPO:

32
cd8 deficiency, familial:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

OMIM 57 608957
MeSH 44 D007153
ICD10 via Orphanet 34 D84.8
UMLS via Orphanet 73 C1837065
Orphanet 59 ORPHA169085
MedGen 42 C1837065
UMLS 72 C1837065

Summaries for Cd8 Deficiency, Familial

UniProtKB/Swiss-Prot : 74 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 Allograft rejection. Affiliated tissues include t cells, and related phenotypes are recurrent respiratory infections and recurrent bacterial infections

More information from OMIM: 608957

Related Diseases for Cd8 Deficiency, Familial

Diseases related to Cd8 Deficiency, Familial via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 bacterial infectious disease 9.8
2 zap70-related combined immunodeficiency 9.8
3 immune deficiency disease 9.7
4 bare lymphocyte syndrome, type i 9.7
5 uveitis 9.7
6 arthritis 9.7
7 chickenpox 9.7
8 bronchiectasis 9.7
9 miliary tuberculosis 9.7
10 zap-70 deficiency 9.7

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:

32
# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 32 HP:0002205
2 recurrent bacterial infections 32 HP:0002718
3 recurrent viral infections 32 HP:0004429
4 bronchiectasis 32 HP:0002110
5 absence of cd8-positive t cells 32 HP:0005422

Symptoms via clinical synopsis from OMIM:

57
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:

41
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. 38 8 71
11435463 2001

Variations for Cd8 Deficiency, Familial

ClinVar genetic disease variations for Cd8 Deficiency, Familial:

6 (show all 20)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CD8A NM_001768.6(CD8A): c.331G> A (p.Gly111Ser) single nucleotide variant Pathogenic rs121918660 2:87017523-87017523 2:86790400-86790400
2 ZAP70 NM_001079.3(ZAP70): c.1714A> T (p.Met572Leu) single nucleotide variant Pathogenic rs113994175 2:98354548-98354548 2:97738085-97738085
3 ZAP70 NM_001079.3(ZAP70): c.239C> A (p.Pro80Gln) single nucleotide variant Pathogenic rs113994172 2:98340738-98340738 2:97724275-97724275
4 CD8A NM_001768.6(CD8A): c.362C> G (p.Ser121Cys) single nucleotide variant Uncertain significance 2:87017492-87017492 2:86790369-86790369
5 CD8A NM_001768.6(CD8A): c.702del (p.Arg233_Tyr234insTer) deletion Uncertain significance 2:87013049-87013049 2:86785926-86785926
6 CD8A NM_001768.6(CD8A): c.623A> T (p.His208Leu) single nucleotide variant Uncertain significance 2:87016448-87016448 2:86789325-86789325
7 CD8A NM_001768.6(CD8A): c.337T> A (p.Tyr113Asn) single nucleotide variant Uncertain significance 2:87017517-87017517 2:86790394-86790394
8 CD8A NM_001768.6(CD8A): c.569C> A (p.Ala190Asp) single nucleotide variant Uncertain significance 2:87016502-87016502 2:86789379-86789379
9 CD8A NM_001768.6(CD8A): c.494G> C (p.Arg165Pro) single nucleotide variant Uncertain significance 2:87016783-87016783 2:86789660-86789660
10 CD8A NM_001768.6(CD8A): c.410C> T (p.Pro137Leu) single nucleotide variant Uncertain significance 2:87016867-87016867 2:86789744-86789744
11 CD8A NM_001768.6(CD8A): c.367_370delinsCTGAGCA (p.Met123_Tyr124delinsLeuSerAsn) indel Uncertain significance 2:87017484-87017487 2:86790361-86790364
12 CD8A NM_001768.6(CD8A): c.403+4C> G single nucleotide variant Uncertain significance 2:87017447-87017447 2:86790324-86790324
13 CD8A NM_001768.6(CD8A): c.404-10G> C single nucleotide variant Likely benign rs746824602 2:87016883-87016883 2:86789760-86789760
14 CD8A NM_001768.6(CD8A): c.504G> A (p.Ala168=) single nucleotide variant Likely benign rs1322717095 2:87016773-87016773 2:86789650-86789650
15 CD8A NM_001768.6(CD8A): c.405G> A (p.Ala135=) single nucleotide variant Benign rs77254522 2:87016872-87016872 2:86789749-86789749
16 CD8A NM_001768.6(CD8A): c.171C> T (p.Leu57=) single nucleotide variant Benign rs181102668 2:87017683-87017683 2:86790560-86790560
17 CD8A NM_001768.6(CD8A): c.298C> T (p.Leu100Phe) single nucleotide variant Benign rs79392961 2:87017556-87017556 2:86790433-86790433
18 CD8A NM_001768.6(CD8A): c.515-6C> T single nucleotide variant Benign rs139743836 2:87016562-87016562 2:86789439-86789439
19 CD8A NM_001768.6(CD8A): c.447G> A (p.Ala149=) single nucleotide variant Benign rs115370220 2:87016830-87016830 2:86789707-86789707
20 CD8A NM_001768.6(CD8A): c.153G> T (p.Thr51=) single nucleotide variant Benign rs147048705 2:87017701-87017701 2:86790578-86790578

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

74
# 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

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 9.16 ZAP70 CD8A
2 immune response GO:0006955 8.96 ZAP70 CD8A
3 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 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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