MCID: ZP7003
MIFTS: 11

Zap70-Related Combined Immunodeficiency

Categories: Immune diseases

Aliases & Classifications for Zap70-Related Combined Immunodeficiency

MalaCards integrated aliases for Zap70-Related Combined Immunodeficiency:

Name: Zap70-Related Combined Immunodeficiency 24

Classifications:



Summaries for Zap70-Related Combined Immunodeficiency

MalaCards based summary : Zap70-Related Combined Immunodeficiency is related to immune deficiency disease and immunodeficiency 48. An important gene associated with Zap70-Related Combined Immunodeficiency is ZAP70 (Zeta Chain Of T Cell Receptor Associated Protein Kinase 70). Affiliated tissues include t cells, b cells and brain.

GeneReviews: NBK20221

Related Diseases for Zap70-Related Combined Immunodeficiency

Diseases related to Zap70-Related Combined Immunodeficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 immune deficiency disease 10.2
2 immunodeficiency 48 10.2
3 oral candidiasis 10.2
4 candidiasis 10.2
5 combined t cell and b cell immunodeficiency 10.2
6 hematopoietic stem cell transplantation 10.2

Graphical network of the top 20 diseases related to Zap70-Related Combined Immunodeficiency:



Diseases related to Zap70-Related Combined Immunodeficiency

Symptoms & Phenotypes for Zap70-Related Combined Immunodeficiency

Drugs & Therapeutics for Zap70-Related Combined Immunodeficiency

Search Clinical Trials , NIH Clinical Center for Zap70-Related Combined Immunodeficiency

Genetic Tests for Zap70-Related Combined Immunodeficiency

Anatomical Context for Zap70-Related Combined Immunodeficiency

MalaCards organs/tissues related to Zap70-Related Combined Immunodeficiency:

41
T Cells, B Cells, Brain, Skin, Testes

Publications for Zap70-Related Combined Immunodeficiency

Articles related to Zap70-Related Combined Immunodeficiency:

(show all 47)
# Title Authors PMID Year
1
Low T cell receptor excision circles (TRECs) in a case of ZAP 70 deficient severe combined immunodeficiency (SCID) with a novel mutation from India. 4
27839984 2017
2
Morpholino-based correction of hypomorphic ZAP70 mutation in an adult with combined immunodeficiency. 4
28216435 2017
3
Novel Mutation of ZAP-70-related Combined Immunodeficiency: First Case from the National Iranian Registry and Review of the Literature. 4
27759478 2017
4
Long-Term Outcomes of Hematopoietic Stem Cell Transplantation for ZAP70 Deficiency. 4
27438785 2016
5
Genotyping an immunodeficiency causing c.1624-11G>A ZAP70 mutation in Canadian Mennonites. 4
27448562 2016
6
An infant with ZAP-70 deficiency with disseminated mycobacterial disease. 4
26707786 2016
7
A novel human autoimmune syndrome caused by combined hypomorphic and activating mutations in ZAP-70. 4
26783323 2016
8
SYK expression endows human ZAP70-deficient CD8 T cells with residual TCR signaling. 4
26187144 2015
9
Silent brain infarcts in two patients with zeta chain-associated protein 70 kDa (ZAP70) deficiency. 4
25805655 2015
10
Transplantation outcomes for severe combined immunodeficiency, 2000-2009. 4
25075835 2014
11
Limitation of TREC-based newborn screening for ZAP70 Severe Combined Immunodeficiency. 4
24797280 2014
12
A novel Zap70 mutation with reduced protein stability demonstrates the rate-limiting threshold for Zap70 in T-cell receptor signalling. 4
24164480 2014
13
Retrospective TREC testing of newborns with Severe Combined Immunodeficiency and other primary immunodeficiency diseases. 4
27896105 2014
14
Emergency treatment for ζ chain-associated protein of 70 kDa (ZAP70) deficiency. 4
23141738 2013
15
Identification of a novel mutation in ZAP70 and prenatal diagnosis in a Turkish family with severe combined immunodeficiency disorder. 4
23124046 2013
16
Defining combined immunodeficiency. 4
22664165 2012
17
Immunological reconstitution in a patient with ZAP-70 deficiency following transfusion of blood lymphocytes from a previously transplanted sibling without conditioning. 4
21441961 2012
18
Diffuse large B-cell lymphoma as presenting feature of Zap-70 deficiency. 4
21094993 2011
19
Characterization of ζ-associated protein, 70 kd (ZAP70)-deficient human lymphocytes. 4
20864151 2010
20
Severe axillary lymphadenitis after BCG vaccination: alert for primary immunodeficiencies. 4
21195982 2010
21
ZAP70: a master regulator of adaptive immunity. 4
20135127 2010
22
Hypomorphic mutation of ZAP70 in human results in a late onset immunodeficiency and no autoimmunity. 4
19548248 2009
23
The structure, regulation, and function of ZAP-70. 4
19290920 2009
24
Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency. 4
18509675 2009
25
ZAP-70 restoration in mice by in vivo thymic electroporation. 4
18446234 2008
26
Gly111Ser mutation in CD8A gene causing CD8 immunodeficiency is found in Spanish Gypsies. 4
17658607 2008
27
Hematopoietic stem cell transplantation for primary immunodeficiency disease. 4
17968328 2008
28
In vivo correction of ZAP-70 immunodeficiency by intrathymic gene transfer. 4
16075064 2005
29
Engagement of the B-cell antigen receptor (BCR) allows efficient transduction of ZAP-70-positive primary B-CLL cells by recombinant adeno-associated virus (rAAV) vectors. 4
15269708 2004
30
Successful unrelated cord blood transplantation in two children with severe combined immunodeficiency syndrome. 4
12621496 2003
31
[Primary immunodeficiency secondary to ZAP-70 deficiency]. 4
11762183 2001
32
Familial CD8 deficiency due to a mutation in the CD8 alpha gene. 4
11435463 2001
33
Specific immunoglobulin E responses in ZAP-70-deficient patients are mediated by Syk-dependent T-cell receptor signalling. 4
11412303 2001
34
Treatment of post-transplant lymphoproliferative disease with induction chemotherapy followed by haploidentical peripheral blood stem cell transplantation and Rituximab. 4
11277182 2001
35
Distinct T cell developmental consequences in humans and mice expressing identical mutations in the DLAARN motif of ZAP-70. 4
11123350 2001
36
Differential requirement of ZAP-70 for CD2-mediated activation pathways of mature human T cells. 4
11034358 2000
37
Retrovirus-mediated transduction of primary ZAP-70-deficient human T cells results in the selective growth advantage of gene-corrected cells: implications for gene therapy. 4
10981666 2000
38
Alternative antigen receptor (TCR) signaling in T cells derived from ZAP-70-deficient patients expressing high levels of Syk. 4
10748099 2000
39
Temperature-sensitive ZAP70 mutants degrading through a proteasome-independent pathway. Restoration of a kinase domain mutant by Cdc37. 4
10574909 1999
40
Existence of activated and memory CD4+ T cells in peripheral blood and their skin infiltration in CD8 deficiency. 4
9933431 1999
41
SCID due to ZAP-70 deficiency. 4
9407944 1997
42
Severe combined immunodeficiency with absence of peripheral blood CD8+ T cells due to ZAP-70 deficiency. 4
7671314 1995
43
Absence of ZAP-70 prevents signaling through the antigen receptor on peripheral blood T cells but not on thymocytes. 4
7561679 1995
44
ZAP-70 deficiency in an autosomal recessive form of severe combined immunodeficiency. 4
8202713 1994
45
Human severe combined immunodeficiency due to a defect in ZAP-70, a T cell tyrosine kinase. 4
8202712 1994
46
Defective T cell receptor signaling and CD8+ thymic selection in humans lacking zap-70 kinase. 4
8124727 1994
47
ZAP70-Related Combined Immunodeficiency 38
20301777 2009

Variations for Zap70-Related Combined Immunodeficiency

Expression for Zap70-Related Combined Immunodeficiency

Search GEO for disease gene expression data for Zap70-Related Combined Immunodeficiency.

Pathways for Zap70-Related Combined Immunodeficiency

GO Terms for Zap70-Related Combined Immunodeficiency

Sources for Zap70-Related Combined Immunodeficiency

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