MCID: CD8002
MIFTS: 25

Cd8 Deficiency, Familial

Categories: Genetic diseases, Blood diseases, Rare diseases

Aliases & Classifications for Cd8 Deficiency, Familial

MalaCards integrated aliases for Cd8 Deficiency, Familial:

Name: Cd8 Deficiency, Familial 57 75 29 13 6 40 73
Susceptibility to Respiratory Infections Associated with Cd8alpha Chain Mutation 59
Familial Cd8 Deficiency 59
Cd8 Deficiency 75

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
Orphanet 59 ORPHA169085
UMLS via Orphanet 74 C1837065
ICD10 via Orphanet 34 D84.8
MedGen 42 C1837065
MeSH 44 D007153
SNOMED-CT via HPO 69 258211005 12295008 428875002
UMLS 73 C1837065

Summaries for Cd8 Deficiency, Familial

UniProtKB/Swiss-Prot : 75 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 bronchiectasis and recurrent respiratory 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 9.5

Symptoms & Phenotypes for Cd8 Deficiency, Familial

Symptoms via clinical synopsis from OMIM:

57
Respiratory Lung:
recurrent bacterial respiratory infections
bronchiectases

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


Clinical features from OMIM:

608957

Human phenotypes related to Cd8 Deficiency, Familial:

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

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 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:

75
# 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 22)
# 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 GRCh37 Chromosome 2, 87016773: 87016773
18 CD8A NM_001768.6(CD8A): c.504G> A (p.Ala168=) single nucleotide variant Likely benign GRCh38 Chromosome 2, 86789650: 86789650
19 CD8A NM_001768.6(CD8A): c.405G> A (p.Ala135=) single nucleotide variant Benign rs77254522 GRCh38 Chromosome 2, 86789749: 86789749
20 CD8A NM_001768.6(CD8A): c.405G> A (p.Ala135=) single nucleotide variant Benign rs77254522 GRCh37 Chromosome 2, 87016872: 87016872
21 CD8A NM_001768.6(CD8A): c.171C> T (p.Leu57=) single nucleotide variant Benign rs181102668 GRCh38 Chromosome 2, 86790560: 86790560
22 CD8A NM_001768.6(CD8A): c.171C> T (p.Leu57=) single nucleotide variant Benign rs181102668 GRCh37 Chromosome 2, 87017683: 87017683

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 9.26 CD8A ZAP70
2 immune response GO:0006955 9.16 CD8A ZAP70
3 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 8.96 CD8A ZAP70
4 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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