MCID: CD4001
MIFTS: 33

Cd45 Deficiency

Categories: Immune diseases

Aliases & Classifications for Cd45 Deficiency

MalaCards integrated aliases for Cd45 Deficiency:

Name: Cd45 Deficiency 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0060014

Summaries for Cd45 Deficiency

Disease Ontology : 12 A severe combined immunodeficiency that is an autosomal recessive disease with T and B lymphocyte dysfunction, due to a large deletion at one allelle and a point mutation at the other. The point mutation resulted in the alteration of intervening sequence 13 donor splice site. The population of T lymphocytes is diminished and unresponsive to mitogen stimulation. The level of B lymphocyte numbers, serum immunoglobulin decreased with age.

MalaCards based summary : Cd45 Deficiency is related to severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive and autoimmune cardiomyopathy. An important gene associated with Cd45 Deficiency is PTPN6 (Protein Tyrosine Phosphatase, Non-Receptor Type 6), and among its related pathways/superpathways are Class I MHC mediated antigen processing and presentation and PAK Pathway. The drugs Fludarabine and Thiotepa have been mentioned in the context of this disorder. Affiliated tissues include t cells, colon and b cells, and related phenotypes are Decreased viability and Decreased viability

Related Diseases for Cd45 Deficiency

Graphical network of the top 20 diseases related to Cd45 Deficiency:



Diseases related to Cd45 Deficiency

Symptoms & Phenotypes for Cd45 Deficiency

GenomeRNAi Phenotypes related to Cd45 Deficiency according to GeneCards Suite gene sharing:

26 (show all 17)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.5 SYK
2 Decreased viability GR00107-A-1 10.5 ZAP70
3 Decreased viability GR00221-A-1 10.5 FYN LCK SYK ZAP70
4 Decreased viability GR00221-A-2 10.5 FYN LCK SYK ZAP70
5 Decreased viability GR00221-A-3 10.5 LCK SYK
6 Decreased viability GR00240-S-1 10.5 FYN
7 Decreased viability GR00301-A 10.5 LCK
8 Decreased viability GR00342-S-1 10.5 LCK ZAP70
9 Decreased viability GR00342-S-2 10.5 ZAP70
10 Decreased viability GR00342-S-3 10.5 LCK
11 Decreased viability GR00402-S-2 10.5 FYN LCK SYK ZAP70
12 Decreased substrate adherent cell growth GR00193-A-2 9.65 FYN LCK SYK
13 Decreased substrate adherent cell growth GR00193-A-3 9.65 LCK
14 Decreased substrate adherent cell growth GR00193-A-4 9.65 LCK
15 Decreased cell migration GR00055-A-1 9.62 LCK PTPN6 SYK ZAP70
16 Reduced mammosphere formation GR00396-S 9.43 CD5 FYN LCK PTPRC SYK ZAP70
17 shRNA abundance <= 50% GR00343-S 9.28 ACKR2 ACP1 CCR9 FYN LCK PTPRC

MGI Mouse Phenotypes related to Cd45 Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 10.13 ACKR2 ACP1 CCR9 CD5 CXCL12 DLL1
2 hematopoietic system MP:0005397 10.11 CCR9 CD5 CXCL12 DLL1 FYN LCK
3 endocrine/exocrine gland MP:0005379 10.06 CCR9 DLL1 FUT1 FYN LCK PTPN6
4 no phenotypic analysis MP:0003012 9.73 CD5 CXCL12 FYN PTPRC PTPRJ SYK
5 normal MP:0002873 9.7 CD5 CXCL12 DLL1 PTPRC PTPRJ THY1
6 reproductive system MP:0005389 9.5 ACKR2 CXCL12 FUT1 FYN LCK PTPN6
7 respiratory system MP:0005388 9.1 PTPN6 PTPRC PTPRJ SYK THY1 ZAP70

Drugs & Therapeutics for Cd45 Deficiency

Drugs for Cd45 Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fludarabine Approved Phase 1, Phase 2,Phase 2 75607-67-9, 21679-14-1 30751
2
Thiotepa Approved, Investigational Phase 1, Phase 2 52-24-4 5453
3
Busulfan Approved, Investigational Phase 1, Phase 2 55-98-1 2478
4 Immunosuppressive Agents Phase 1, Phase 2
5 Antilymphocyte Serum Phase 1, Phase 2
6 Antineoplastic Agents, Alkylating Phase 1, Phase 2
7 Thymoglobulin Phase 1, Phase 2
8 Alkylating Agents Phase 1, Phase 2
9 Immunologic Factors Phase 1, Phase 2
10 Antimetabolites Phase 1, Phase 2
11 Antimetabolites, Antineoplastic Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Haplocompatible Transplant Using TCRα/β Depletion Followed by CD45RA-Depleted Donor Lymphocyte Infusions for Severe Combined Immunodeficiency (SCID) Recruiting NCT03597594 Phase 1, Phase 2 Anti-thymocyte globulin (rabbit);Busulfan;Fludarabine;Thiotepa

Search NIH Clinical Center for Cd45 Deficiency

Genetic Tests for Cd45 Deficiency

Anatomical Context for Cd45 Deficiency

MalaCards organs/tissues related to Cd45 Deficiency:

41
T Cells, Colon, B Cells, Thymus, Nk Cells

Publications for Cd45 Deficiency

Articles related to Cd45 Deficiency:

# Title Authors Year
1
CD45 deficiency drives amyloid-I^ peptide oligomers and neuronal loss in Alzheimer's disease mice. ( 21273420 )
2011
2
Surface expression of hemopoietic cell phosphatase fails to complement CD45 deficiency and inhibits TCR-mediated signal transduction in a Jurkat T cell clone. ( 9029091 )
1997
3
Surface expression of a heterologous phosphatase complements CD45 deficiency in a T cell clone. ( 7931069 )
1994

Variations for Cd45 Deficiency

Expression for Cd45 Deficiency

Search GEO for disease gene expression data for Cd45 Deficiency.

Pathways for Cd45 Deficiency

Pathways related to Cd45 Deficiency according to GeneCards Suite gene sharing:

(show top 50) (show all 52)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.38 FYN LCK PTPN6 PTPRC PTPRJ SYK
2
Show member pathways
13.23 CCR9 CXCL12 DLL1 FYN PTPN6 PTPRC
3
Show member pathways
12.99 CXCL12 FYN LCK SYK ZAP70
4
Show member pathways
12.84 FYN LCK PTPRC SYK ZAP70
5
Show member pathways
12.81 CCR9 CXCL12 FYN LCK PTPRC ZAP70
6
Show member pathways
12.64 FYN LCK PTPN6 SYK
7
Show member pathways
12.58 FYN LCK PTPRC SYK ZAP70
8
Show member pathways
12.51 FYN PTPN6 PTPRC SYK
9
Show member pathways
12.5 CXCL12 FYN LCK PTPRC
10
Show member pathways
12.46 FYN LCK PTPN6 SYK ZAP70
11 12.4 CXCL12 LCK PTPN6 PTPRC SYK ZAP70
12
Show member pathways
12.37 FYN LCK PTPN6 PTPRC ZAP70
13
Show member pathways
12.34 CXCL12 FYN LCK PTPN6 PTPRC
14
Show member pathways
12.33 FYN LCK PTPRC SYK ZAP70
15
Show member pathways
12.31 FYN LCK PTPN6 PTPRC SYK
16
Show member pathways
12.3 LCK PTPRC PTPRJ ZAP70
17
Show member pathways
12.24 LCK PTPN6 PTPRC SYK ZAP70
18
Show member pathways
12.13 FYN LCK PTPN6
19
Show member pathways
12.1 FYN LCK PTPN6 SYK
20
Show member pathways
12.09 FYN PTPN6 SYK
21 12.08 FYN LCK SYK ZAP70
22
Show member pathways
12 FYN LCK SYK
23 11.98 FYN LCK SYK
24
Show member pathways
11.93 ACKR2 CCR9 CXCL12
25 11.92 CD5 PTPRC THY1
26
Show member pathways
11.89 LCK PTPN6 SYK
27
Show member pathways
11.87 FYN PTPN6 SYK
28 11.84 CXCL12 LCK SYK ZAP70
29
Show member pathways
11.76 LCK PTPN6 PTPRC PTPRJ ZAP70
30 11.71 CXCL12 FYN LCK PTPN6 PTPRC
31
Show member pathways
11.69 FYN LCK PTPN6 PTPRC ZAP70
32 11.66 CXCL12 FYN LCK ZAP70
33 11.65 ACP1 FYN PTPN6 PTPRJ
34 11.63 FYN LCK SYK ZAP70
35 11.62 FYN LCK SYK ZAP70
36 11.55 CD5 PTPRC THY1
37 11.55 FYN LCK PTPRC ZAP70
38 11.49 FYN LCK THY1
39 11.47 ACP1 FYN LCK PTPRJ
40 11.46 FYN LCK SYK
41 11.35 LCK PTPRC ZAP70
42 11.28 FYN LCK SYK
43 11.23 CXCL12 FYN LCK PTPN6 PTPRC
44
Show member pathways
11.16 LCK PTPN6 SYK
45 11.14 FYN LCK
46 11.14 FYN LCK
47 11.12 FYN LCK
48 10.95 FYN SYK
49 10.95 FYN LCK PTPN6 ZAP70
50 10.9 FYN LCK PTPN6

GO Terms for Cd45 Deficiency

Cellular components related to Cd45 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.98 ACP1 CXCL12 LCK PTPN6 PTPRC PTPRJ
2 integral component of plasma membrane GO:0005887 9.76 ACKR2 CCR9 CD5 DLL1 FUT1 PTPRC
3 cell-cell junction GO:0005911 9.63 PTPN6 PTPRJ ZAP70
4 immunological synapse GO:0001772 9.54 LCK PTPRJ ZAP70
5 external side of plasma membrane GO:0009897 9.43 ACKR2 CCR9 CD5 CXCL12 PTPRC THY1
6 T cell receptor complex GO:0042101 9.4 SYK ZAP70
7 membrane raft GO:0045121 9.1 DLL1 FYN LCK PTPRC THY1 ZAP70
8 membrane GO:0016020 10.17 ACKR2 ACP1 CCR9 CD5 DLL1 FUT1
9 plasma membrane GO:0005886 10.03 ACKR2 CCR9 CD5 CXCL12 DLL1 FYN

Biological processes related to Cd45 Deficiency according to GeneCards Suite gene sharing:

(show all 40)
# Name GO ID Score Top Affiliating Genes
1 intracellular signal transduction GO:0035556 9.97 FYN PTPN6 SYK ZAP70
2 viral process GO:0016032 9.96 CXCL12 FYN LCK SYK
3 dephosphorylation GO:0016311 9.86 PTPN6 PTPRC PTPRJ
4 positive regulation of protein kinase B signaling GO:0051897 9.85 FYN LCK PTPRJ
5 chemotaxis GO:0006935 9.83 ACKR2 CCR9 CXCL12
6 protein autophosphorylation GO:0046777 9.81 FYN SYK THY1 ZAP70
7 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.76 PTPRC PTPRJ SYK
8 B cell receptor signaling pathway GO:0050853 9.76 LCK PTPN6 PTPRC SYK
9 cell chemotaxis GO:0060326 9.75 ACKR2 CCR9 CXCL12
10 platelet activation GO:0030168 9.73 FYN LCK PTPN6 SYK
11 chemokine-mediated signaling pathway GO:0070098 9.72 ACKR2 CCR9 CXCL12
12 protein dephosphorylation GO:0006470 9.72 ACP1 LCK PTPN6 PTPRC PTPRJ
13 peptidyl-tyrosine dephosphorylation GO:0035335 9.71 ACP1 PTPN6 PTPRC PTPRJ
14 leukocyte cell-cell adhesion GO:0007159 9.68 PTPRC SYK
15 regulation of ERK1 and ERK2 cascade GO:0070372 9.68 PTPN6 SYK
16 regulation of defense response to virus by virus GO:0050690 9.67 FYN LCK
17 T cell differentiation GO:0030217 9.67 LCK PTPRC ZAP70
18 positive regulation of focal adhesion assembly GO:0051894 9.66 PTPRJ THY1
19 positive regulation of T cell activation GO:0050870 9.65 LCK THY1
20 calcium-mediated signaling using intracellular calcium source GO:0035584 9.65 PTPRC PTPRJ
21 peptidyl-tyrosine phosphorylation GO:0018108 9.65 FYN LCK PTPN6 SYK ZAP70
22 positive regulation of T cell differentiation GO:0045582 9.64 PTPRC ZAP70
23 positive regulation of calcium-mediated signaling GO:0050850 9.64 SYK ZAP70
24 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.63 LCK THY1
25 negative regulation of protein tyrosine kinase activity GO:0061099 9.63 PTPRC THY1
26 positive regulation of cell adhesion mediated by integrin GO:0033630 9.62 PTPN6 SYK
27 negative regulation of peptidyl-tyrosine phosphorylation GO:0050732 9.62 PTPN6 PTPRC
28 detection of mechanical stimulus involved in sensory perception of pain GO:0050966 9.61 CXCL12 FYN
29 negative thymic T cell selection GO:0045060 9.61 PTPRC ZAP70
30 positive thymic T cell selection GO:0045059 9.6 PTPRC ZAP70
31 regulation of B cell differentiation GO:0045577 9.59 PTPN6 PTPRC
32 positive regulation of alpha-beta T cell differentiation GO:0046638 9.57 SYK ZAP70
33 regulation of phagocytosis GO:0050764 9.56 PTPRC SYK
34 positive regulation of Fc-gamma receptor signaling pathway involved in phagocytosis GO:1905451 9.54 PTPRC PTPRJ
35 negative regulation of T cell receptor signaling pathway GO:0050860 9.54 PTPN6 PTPRJ THY1
36 positive regulation of gamma-delta T cell differentiation GO:0045588 9.52 PTPRC SYK
37 beta selection GO:0043366 9.48 SYK ZAP70
38 positive regulation of alpha-beta T cell proliferation GO:0046641 9.33 PTPRC SYK ZAP70
39 T cell costimulation GO:0031295 9.26 CD5 FYN LCK PTPN6
40 T cell receptor signaling pathway GO:0050852 9.1 FYN LCK PTPRC PTPRJ THY1 ZAP70

Molecular functions related to Cd45 Deficiency according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.84 CXCL12 FYN LCK PTPRC
2 protein tyrosine kinase activity GO:0004713 9.73 FYN LCK SYK ZAP70
3 phosphatase activity GO:0016791 9.7 PTPN6 PTPRC PTPRJ
4 integrin binding GO:0005178 9.69 CXCL12 SYK THY1
5 protein kinase binding GO:0019901 9.63 LCK PTPN6 PTPRC PTPRJ SYK THY1
6 protein tyrosine phosphatase activity GO:0004725 9.62 ACP1 PTPN6 PTPRC PTPRJ
7 chemokine binding GO:0019956 9.58 ACKR2 CCR9
8 C-C chemokine binding GO:0019957 9.58 ACKR2 CCR9
9 SH2 domain binding GO:0042169 9.58 LCK PTPN6 SYK
10 C-C chemokine receptor activity GO:0016493 9.57 ACKR2 CCR9
11 chemokine receptor activity GO:0004950 9.56 ACKR2 CCR9
12 phosphoprotein phosphatase activity GO:0004721 9.56 ACP1 PTPN6 PTPRC PTPRJ
13 phosphatidylinositol 3-kinase binding GO:0043548 9.55 FYN LCK
14 transmembrane receptor protein tyrosine phosphatase activity GO:0005001 9.49 PTPN6 PTPRC
15 CD4 receptor binding GO:0042609 9.48 FYN LCK
16 T cell receptor binding GO:0042608 9.46 FYN LCK
17 CD8 receptor binding GO:0042610 9.37 FYN LCK
18 non-membrane spanning protein tyrosine kinase activity GO:0004715 9.26 FYN LCK SYK ZAP70
19 phosphotyrosine residue binding GO:0001784 8.92 LCK PTPN6 SYK ZAP70

Sources for Cd45 Deficiency

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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