MCID: CMB092
MIFTS: 20

Combined Immunodeficiency Due to Cd27 Deficiency

Categories: Blood diseases, Immune diseases, Rare diseases

Aliases & Classifications for Combined Immunodeficiency Due to Cd27 Deficiency

MalaCards integrated aliases for Combined Immunodeficiency Due to Cd27 Deficiency:

Name: Combined Immunodeficiency Due to Cd27 Deficiency 60
Autosomal Recessive Lymphoproliferative Disease Due to Cd27 Deficiency 60
Cd27 Deficiency 60

Characteristics:

Orphanet epidemiological data:

60
combined immunodeficiency due to cd27 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:

Orphanet: 60  
Rare immunological diseases


External Ids:

ICD10 via Orphanet 35 D47.9
Orphanet 60 ORPHA238505

Summaries for Combined Immunodeficiency Due to Cd27 Deficiency

MalaCards based summary : Combined Immunodeficiency Due to Cd27 Deficiency, also known as autosomal recessive lymphoproliferative disease due to cd27 deficiency, is related to lymphoproliferative syndrome 2 and combined t cell and b cell immunodeficiency. An important gene associated with Combined Immunodeficiency Due to Cd27 Deficiency is CD70 (CD70 Molecule), and among its related pathways/superpathways are Akt Signaling and Apoptosis Modulation and Signaling. Affiliated tissues include t cells and b cells.

Related Diseases for Combined Immunodeficiency Due to Cd27 Deficiency

Diseases related to Combined Immunodeficiency Due to Cd27 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 lymphoproliferative syndrome 2 32.8 CD27 CD70
2 combined t cell and b cell immunodeficiency 9.9
3 lymphoproliferative syndrome 9.7 CD27 ITK
4 hemophagocytic lymphohistiocytosis 9.7 CD27 ITK
5 macroglobulinemia 9.7 CD27 CD70
6 leukemia, chronic lymphocytic 9.6 CD27 CD70
7 common variable immunodeficiency 9.6 CD27 CD70
8 lymphoma, non-hodgkin, familial 9.4 CD27 CD70

Graphical network of the top 20 diseases related to Combined Immunodeficiency Due to Cd27 Deficiency:



Diseases related to Combined Immunodeficiency Due to Cd27 Deficiency

Symptoms & Phenotypes for Combined Immunodeficiency Due to Cd27 Deficiency

Drugs & Therapeutics for Combined Immunodeficiency Due to Cd27 Deficiency

Search Clinical Trials , NIH Clinical Center for Combined Immunodeficiency Due to Cd27 Deficiency

Genetic Tests for Combined Immunodeficiency Due to Cd27 Deficiency

Anatomical Context for Combined Immunodeficiency Due to Cd27 Deficiency

MalaCards organs/tissues related to Combined Immunodeficiency Due to Cd27 Deficiency:

42
T Cells, B Cells

Publications for Combined Immunodeficiency Due to Cd27 Deficiency

Articles related to Combined Immunodeficiency Due to Cd27 Deficiency:

# Title Authors Year
1
Immune Dysregulation Syndromes (IPEX, CD27 Deficiency, and Others): Always Doomed from the Start? ( 26661331 )
2016
2
Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency. ( 25843314 )
2015
3
CD27 deficiency is associated with combined immunodeficiency and persistent symptomatic EBV viremia. ( 22197273 )
2012

Variations for Combined Immunodeficiency Due to Cd27 Deficiency

Expression for Combined Immunodeficiency Due to Cd27 Deficiency

Search GEO for disease gene expression data for Combined Immunodeficiency Due to Cd27 Deficiency.

Pathways for Combined Immunodeficiency Due to Cd27 Deficiency

GO Terms for Combined Immunodeficiency Due to Cd27 Deficiency

Biological processes related to Combined Immunodeficiency Due to Cd27 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 tumor necrosis factor-mediated signaling pathway GO:0033209 8.96 CD27 CD70
2 extrinsic apoptotic signaling pathway GO:0097191 8.62 CD27 CD70

Sources for Combined Immunodeficiency Due to Cd27 Deficiency

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
Content
Loading form....