CD8 DEFICIENCY
MCID: CD8002
MIFTS: 25

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 58 76 30 13 6 41 74
Susceptibility to Respiratory Infections Associated with Cd8alpha Chain Mutation 60
Familial Cd8 Deficiency 60
Cd8 Deficiency 76

Characteristics:

Orphanet epidemiological data:

60
susceptibility to respiratory infections associated with cd8alpha chain mutation
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
may be asymptomatic


HPO:

33
cd8 deficiency, familial:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare immunological diseases


External Ids:

OMIM 58 608957
MeSH 45 D007153
ICD10 via Orphanet 35 D84.8
UMLS via Orphanet 75 C1837065
Orphanet 60 ORPHA169085
MedGen 43 C1837065
SNOMED-CT via HPO 70 12295008 258211005 428875002
UMLS 74 C1837065

Summaries for Cd8 Deficiency, Familial

UniProtKB/Swiss-Prot : 76 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 miliary tuberculosis. 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

Description 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 miliary tuberculosis 9.6

Symptoms & Phenotypes for Cd8 Deficiency, Familial

Human phenotypes related to Cd8 Deficiency, Familial:

33
# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 33 HP:0002205
2 recurrent bacterial infections 33 HP:0002718
3 recurrent viral infections 33 HP:0004429
4 bronchiectasis 33 HP:0002110
5 absence of cd8-positive t cells 33 HP:0005422

Symptoms via clinical synopsis from OMIM:

58
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 30 CD8A

Anatomical Context for Cd8 Deficiency, Familial

MalaCards organs/tissues related to Cd8 Deficiency, Familial:

42
T Cells

Publications for Cd8 Deficiency, Familial

Articles related to Cd8 Deficiency, Familial:

# Title Authors Year
1
Familial CD8 deficiency due to a mutation in the CD8 alpha gene. ( 11435463 )
2001

Variations for Cd8 Deficiency, Familial

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

76
# Symbol AA change Variation ID SNP ID
1 CD8A p.Gly111Ser VAR_021020 rs121918660

ClinVar genetic disease variations for Cd8 Deficiency, Familial:

6 (show all 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 CD8A NM_001768.6(CD8A): c.331G> A (p.Gly111Ser) single nucleotide variant Pathogenic rs121918660 GRCh37 Chromosome 2, 87017523: 87017523
2 CD8A NM_001768.6(CD8A): c.331G> A (p.Gly111Ser) single nucleotide variant Pathogenic rs121918660 GRCh38 Chromosome 2, 86790400: 86790400
3 ZAP70 NM_001079.3(ZAP70): c.1714A> T (p.Met572Leu) single nucleotide variant Pathogenic rs113994175 GRCh37 Chromosome 2, 98354548: 98354548
4 ZAP70 NM_001079.3(ZAP70): c.1714A> T (p.Met572Leu) single nucleotide variant Pathogenic rs113994175 GRCh38 Chromosome 2, 97738085: 97738085
5 ZAP70 NM_001079.3(ZAP70): c.239C> A (p.Pro80Gln) single nucleotide variant Pathogenic rs113994172 GRCh37 Chromosome 2, 98340738: 98340738
6 ZAP70 NM_001079.3(ZAP70): c.239C> A (p.Pro80Gln) single nucleotide variant Pathogenic rs113994172 GRCh38 Chromosome 2, 97724275: 97724275
7 CD8A NM_001768.6(CD8A): c.515-6C> T single nucleotide variant Benign rs139743836 GRCh38 Chromosome 2, 86789439: 86789439
8 CD8A NM_001768.6(CD8A): c.515-6C> T single nucleotide variant Benign rs139743836 GRCh37 Chromosome 2, 87016562: 87016562
9 CD8A NM_001768.6(CD8A): c.447G> A (p.Ala149=) single nucleotide variant Benign rs115370220 GRCh37 Chromosome 2, 87016830: 87016830
10 CD8A NM_001768.6(CD8A): c.447G> A (p.Ala149=) single nucleotide variant Benign rs115370220 GRCh38 Chromosome 2, 86789707: 86789707
11 CD8A NM_001768.6(CD8A): c.153G> T (p.Thr51=) single nucleotide variant Benign rs147048705 GRCh38 Chromosome 2, 86790578: 86790578
12 CD8A NM_001768.6(CD8A): c.153G> T (p.Thr51=) single nucleotide variant Benign rs147048705 GRCh37 Chromosome 2, 87017701: 87017701
13 CD8A NM_001768.6(CD8A): c.404-10G> C single nucleotide variant Likely benign rs746824602 GRCh38 Chromosome 2, 86789760: 86789760
14 CD8A NM_001768.6(CD8A): c.404-10G> C single nucleotide variant Likely benign rs746824602 GRCh37 Chromosome 2, 87016883: 87016883
15 CD8A NM_001768.6(CD8A): c.298C> T (p.Leu100Phe) single nucleotide variant Benign rs79392961 GRCh38 Chromosome 2, 86790433: 86790433
16 CD8A NM_001768.6(CD8A): c.298C> T (p.Leu100Phe) single nucleotide variant Benign rs79392961 GRCh37 Chromosome 2, 87017556: 87017556
17 CD8A NM_001768.6(CD8A): c.504G> A (p.Ala168=) single nucleotide variant Likely benign rs1322717095 GRCh37 Chromosome 2, 87016773: 87016773
18 CD8A NM_001768.6(CD8A): c.504G> A (p.Ala168=) single nucleotide variant Likely benign rs1322717095 GRCh38 Chromosome 2, 86789650: 86789650
19 CD8A NM_001768.6(CD8A): c.405G> A (p.Ala135=) single nucleotide variant Benign rs77254522 GRCh37 Chromosome 2, 87016872: 87016872
20 CD8A NM_001768.6(CD8A): c.405G> A (p.Ala135=) single nucleotide variant Benign rs77254522 GRCh38 Chromosome 2, 86789749: 86789749
21 CD8A NM_001768.6(CD8A): c.171C> T (p.Leu57=) single nucleotide variant Benign rs181102668 GRCh37 Chromosome 2, 87017683: 87017683
22 CD8A NM_001768.6(CD8A): c.171C> T (p.Leu57=) single nucleotide variant Benign rs181102668 GRCh38 Chromosome 2, 86790560: 86790560
23 CD8A NM_001768.6(CD8A): c.362C> G (p.Ser121Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 86790369: 86790369
24 CD8A NM_001768.6(CD8A): c.362C> G (p.Ser121Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 87017492: 87017492

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 CD8A ZAP70

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 CD8A ZAP70
2 immune response GO:0006955 8.96 CD8A ZAP70
3 T cell activation GO:0042110 8.62 CD8A ZAP70

Sources for Cd8 Deficiency, Familial

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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