MCID: ZP7002
MIFTS: 15

Zap-70 Deficiency

Categories: Immune diseases, Rare diseases

Aliases & Classifications for Zap-70 Deficiency

MalaCards integrated aliases for Zap-70 Deficiency:

Name: Zap-70 Deficiency 20
Severe Combined Immunodeficiency Due to Zap70 Deficiency 20
Zeta-Associated-Protein 70 Deficiency 20
Zap70 Deficiency 70

Classifications:



External Ids:

UMLS 70 C2931299

Summaries for Zap-70 Deficiency

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 911 Definition A very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T- cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction.

MalaCards based summary : Zap-70 Deficiency, also known as severe combined immunodeficiency due to zap70 deficiency, is related to zap70-related severe combined immunodeficiency and combined immunodeficiency, and has symptoms including diarrhea An important gene associated with Zap-70 Deficiency is ZAP70 (Zeta Chain Of T Cell Receptor Associated Protein Kinase 70). Affiliated tissues include t cells and bone marrow.

Related Diseases for Zap-70 Deficiency

Graphical network of the top 20 diseases related to Zap-70 Deficiency:



Diseases related to Zap-70 Deficiency

Symptoms & Phenotypes for Zap-70 Deficiency

UMLS symptoms related to Zap-70 Deficiency:


diarrhea

Drugs & Therapeutics for Zap-70 Deficiency

Search Clinical Trials , NIH Clinical Center for Zap-70 Deficiency

Genetic Tests for Zap-70 Deficiency

Anatomical Context for Zap-70 Deficiency

MalaCards organs/tissues related to Zap-70 Deficiency:

40
T Cells, Bone Marrow

Publications for Zap-70 Deficiency

Articles related to Zap-70 Deficiency:

(show all 23)
# Title Authors PMID Year
1
ZAP-70 constitutively regulates gene expression and protein synthesis in chronic lymphocytic leukemia. 61
33619528 2021
2
Clinical and Mutation Description of the First Iranian Cohort of Infantile Inflammatory Bowel Disease: The Iranian Primary Immunodeficiency Registry (IPIDR). 61
32633164 2020
3
Time-dependent decline of T-cell receptor excision circle levels in ZAP-70 deficiency. 61
31449923 2020
4
Clinical, Immunological, and Genetic Features in 49 Patients With ZAP-70 Deficiency: A Systematic Review. 61
32431715 2020
5
ZAP-70 Regulates Autoimmune Arthritis via Alterations in T Cell Activation and Apoptosis. 61
31137740 2019
6
Novel Mutation of ZAP-70-related Combined Immunodeficiency: First Case from the National Iranian Registry and Review of the Literature. 61
27759478 2017
7
An infant with ZAP-70 deficiency with disseminated mycobacterial disease. 61
26707786 2016
8
A novel human autoimmune syndrome caused by combined hypomorphic and activating mutations in ZAP-70. 61
26783323 2016
9
Immunological reconstitution in a patient with ZAP-70 deficiency following transfusion of blood lymphocytes from a previously transplanted sibling without conditioning. 61
21441961 2012
10
Diffuse large B-cell lymphoma as presenting feature of Zap-70 deficiency. 61
21094993 2011
11
Skin manifestations of immunodeficiencies in children. 61
20467400 2010
12
Recurrent infections and bilateral uveitis in a patient with CD8 deficiency. 61
17301423 2005
13
Studies of patients' thymi aid in the discovery and characterization of immunodeficiency in humans. 61
15661027 2005
14
Successful unrelated cord blood transplantation in two children with severe combined immunodeficiency syndrome. 61
12621496 2003
15
Reconstitution of lymphoid development and function in ZAP-70-deficient mice following gene transfer into bone marrow cells. 61
12149205 2002
16
[Primary immunodeficiency secondary to ZAP-70 deficiency]. 61
11762183 2001
17
Specific immunoglobulin E responses in ZAP-70-deficient patients are mediated by Syk-dependent T-cell receptor signalling. 61
11412303 2001
18
Distinct T cell developmental consequences in humans and mice expressing identical mutations in the DLAARN motif of ZAP-70. 61
11123350 2001
19
Novel immunodeficiency data servers. 61
11213802 2000
20
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. 61
10981666 2000
21
SCID due to ZAP-70 deficiency. 61
9407944 1997
22
Severe combined immunodeficiency with absence of peripheral blood CD8+ T cells due to ZAP-70 deficiency. 61
7671314 1995
23
ZAP-70 deficiency in an autosomal recessive form of severe combined immunodeficiency. 61
8202713 1994

Variations for Zap-70 Deficiency

Expression for Zap-70 Deficiency

Search GEO for disease gene expression data for Zap-70 Deficiency.

Pathways for Zap-70 Deficiency

GO Terms for Zap-70 Deficiency

Sources for Zap-70 Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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