MCID: ZP7001
MIFTS: 20

Zap70-Related Severe Combined Immunodeficiency

Categories: Immune diseases

Aliases & Classifications for Zap70-Related Severe Combined Immunodeficiency

MalaCards integrated aliases for Zap70-Related Severe Combined Immunodeficiency:

Name: Zap70-Related Severe Combined Immunodeficiency 25 29 6
Zeta-Associated Protein 70 Deficiency 25
Selective T-Cell Defect 25
Zap70-Related Scid 25
Zap70 Deficiency 71

Classifications:



External Ids:

UMLS 71 C2931299

Summaries for Zap70-Related Severe Combined Immunodeficiency

Genetics Home Reference : 25 ZAP70-related severe combined immunodeficiency (SCID) is an inherited disorder that damages the immune system. ZAP70-related SCID is one of several forms of severe combined immunodeficiency, a group of disorders with several genetic causes. Children with SCID lack virtually all immune protection from bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. Often the organisms that cause infection in people with this disorder are described as opportunistic because they ordinarily do not cause illness in healthy people. Infants with SCID typically experience pneumonia, chronic diarrhea, and widespread skin rashes. They also grow much more slowly than healthy children. If not treated in a way that restores immune function, children with SCID usually live only a year or two. ZAP70 ZAP70 Most individuals with ZAP70-related SCID are diagnosed in the first 6 months of life. At least one individual first showed signs of the condition later in childhood and had less severe symptoms, primarily recurrent respiratory and skin infections. ZAP70

MalaCards based summary : Zap70-Related Severe Combined Immunodeficiency, also known as zeta-associated protein 70 deficiency, is related to immunodeficiency 48 and zap-70 deficiency, and has symptoms including diarrhea An important gene associated with Zap70-Related Severe Combined Immunodeficiency is ZAP70 (Zeta Chain Of T Cell Receptor Associated Protein Kinase 70). Affiliated tissues include t cells, skin and brain.

Related Diseases for Zap70-Related Severe Combined Immunodeficiency

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

# Related Disease Score Top Affiliating Genes
1 immunodeficiency 48 12.2
2 zap-70 deficiency 11.8
3 purine nucleoside phosphorylase deficiency 9.8
4 allergic hypersensitivity disease 9.8

Symptoms & Phenotypes for Zap70-Related Severe Combined Immunodeficiency

UMLS symptoms related to Zap70-Related Severe Combined Immunodeficiency:


diarrhea

Drugs & Therapeutics for Zap70-Related Severe Combined Immunodeficiency

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical Characteristics and Genetic Profiles of Severe Combined Immunodeficiency in China Unknown status NCT02231983

Search NIH Clinical Center for Zap70-Related Severe Combined Immunodeficiency

Genetic Tests for Zap70-Related Severe Combined Immunodeficiency

Genetic tests related to Zap70-Related Severe Combined Immunodeficiency:

# Genetic test Affiliating Genes
1 Zap70-Related Severe Combined Immunodeficiency 29

Anatomical Context for Zap70-Related Severe Combined Immunodeficiency

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

40
T Cells, Skin, Brain, Testes

Publications for Zap70-Related Severe Combined Immunodeficiency

Articles related to Zap70-Related Severe Combined Immunodeficiency:

(show all 17)
# Title Authors PMID Year
1
ZAP70 deficiency promotes reverse cholesterol transport through MAPK/ERK pathway in Jurkat cell. 61
30639475 2019
2
Clinical, Immunological, and Molecular Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India. 61
30778343 2019
3
[Inherited lymphoproliferative disorders]. 61
31281164 2019
4
Dysregulation of Epstein-Barr Virus Infection in Hypomorphic ZAP70 Mutation. 61
29684201 2018
5
Novel compound heterozygous mutations in ZAP70 in a Chinese patient with leaky severe combined immunodeficiency disorder. 61
28124082 2017
6
Long-Term Outcomes of Hematopoietic Stem Cell Transplantation for ZAP70 Deficiency. 61
27438785 2016
7
SYK expression endows human ZAP70-deficient CD8 T cells with residual TCR signaling. 61
26187144 2015
8
Silent brain infarcts in two patients with zeta chain-associated protein 70 kDa (ZAP70) deficiency. 61
25805655 2015
9
Retrospective TREC testing of newborns with Severe Combined Immunodeficiency and other primary immunodeficiency diseases. 61
27896105 2014
10
Emergency treatment for ζ chain-associated protein of 70 kDa (ZAP70) deficiency. 61
23141738 2013
11
ζ Chain-associated protein of 70 kDa (ZAP70) deficiency in human subjects is associated with abnormalities of thymic stromal cells: Implications for T-cell tolerance. 61
23245794 2013
12
Identification of a novel mutation in ZAP70 and prenatal diagnosis in a Turkish family with severe combined immunodeficiency disorder. 61
23124046 2013
13
Defining combined immunodeficiency. 61
22664165 2012
14
Severe axillary lymphadenitis after BCG vaccination: alert for primary immunodeficiencies. 61
21195982 2010
15
Characterization of ζ-associated protein, 70 kd (ZAP70)-deficient human lymphocytes. 61
20864151 2010
16
Hypomorphic mutation of ZAP70 in human results in a late onset immunodeficiency and no autoimmunity. 61
19548248 2009
17
Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency. 61
18509675 2009

Variations for Zap70-Related Severe Combined Immunodeficiency

ClinVar genetic disease variations for Zap70-Related Severe Combined Immunodeficiency:

6 (show all 31) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ZAP70 NM_001079.3(ZAP70):c.1247dup (p.Met416fs)duplication Pathogenic 567226 rs1559328006 2:98351876-98351877 2:97735413-97735414
2 ZAP70 NM_001079.3(ZAP70):c.981C>G (p.Asp327Glu)SNV Uncertain significance 583386 rs201605654 2:98351074-98351074 2:97734611-97734611
3 ZAP70 NM_001079.3(ZAP70):c.1757T>C (p.Phe586Ser)SNV Uncertain significance 569200 rs1559330813 2:98355858-98355858 2:97739395-97739395
4 ZAP70 NM_001079.3(ZAP70):c.827C>T (p.Thr276Met)SNV Uncertain significance 565808 rs199502727 2:98349796-98349796 2:97733333-97733333
5 ZAP70 NM_001079.3(ZAP70):c.914C>T (p.Pro305Leu)SNV Uncertain significance 572188 rs762428344 2:98351007-98351007 2:97734544-97734544
6 ZAP70 NM_001079.3(ZAP70):c.1429A>G (p.Ile477Val)SNV Uncertain significance 573039 rs1559329401 2:98354075-98354075 2:97737612-97737612
7 ZAP70 NM_001079.3(ZAP70):c.1490C>T (p.Ser497Leu)SNV Uncertain significance 576771 rs149765220 2:98354227-98354227 2:97737764-97737764
8 ZAP70 NM_001079.3(ZAP70):c.1591G>A (p.Glu531Lys)SNV Uncertain significance 567678 rs1559329735 2:98354328-98354328 2:97737865-97737865
9 ZAP70 NM_001079.3(ZAP70):c.940G>A (p.Val314Met)SNV Uncertain significance 636456 2:98351033-98351033 2:97734570-97734570
10 ZAP70 NM_001079.3(ZAP70):c.80C>A (p.Ala27Glu)SNV Uncertain significance 646277 2:98340579-98340579 2:97724116-97724116
11 ZAP70 NM_001079.3(ZAP70):c.109C>G (p.Arg37Gly)SNV Uncertain significance 659958 2:98340608-98340608 2:97724145-97724145
12 ZAP70 NM_001079.3(ZAP70):c.302C>A (p.Pro101Gln)SNV Uncertain significance 651969 2:98340801-98340801 2:97724338-97724338
13 ZAP70 NM_001079.3(ZAP70):c.935C>T (p.Thr312Met)SNV Uncertain significance 640029 2:98351028-98351028 2:97734565-97734565
14 ZAP70 NM_001079.3(ZAP70):c.973C>T (p.Leu325Phe)SNV Uncertain significance 640017 2:98351066-98351066 2:97734603-97734603
15 ZAP70 NM_001079.3(ZAP70):c.988C>T (p.Leu330Phe)SNV Uncertain significance 659011 2:98351081-98351081 2:97734618-97734618
16 ZAP70 NM_001079.3(ZAP70):c.1018G>A (p.Ala340Thr)SNV Uncertain significance 640510 2:98351111-98351111 2:97734648-97734648
17 ZAP70 NM_001079.3(ZAP70):c.1115A>C (p.Lys372Thr)SNV Uncertain significance 662568 2:98351745-98351745 2:97735282-97735282
18 ZAP70 NM_001079.3(ZAP70):c.1139C>T (p.Thr380Met)SNV Uncertain significance 654054 2:98351769-98351769 2:97735306-97735306
19 ZAP70 NM_001079.3(ZAP70):c.1190A>G (p.Tyr397Cys)SNV Uncertain significance 642687 2:98351820-98351820 2:97735357-97735357
20 ZAP70 NM_001079.3(ZAP70):c.1468G>A (p.Asp490Asn)SNV Uncertain significance 662682 2:98354114-98354114 2:97737651-97737651
21 ZAP70 NM_001079.3(ZAP70):c.1529_1532dup (p.Ile511fs)duplication Uncertain significance 659957 2:98354263-98354264 2:97737800-97737801
22 ZAP70 NM_001079.3(ZAP70):c.1556G>A (p.Arg519His)SNV Uncertain significance 650235 2:98354293-98354293 2:97737830-97737830
23 ZAP70 NM_001079.3(ZAP70):c.1753G>A (p.Asp585Asn)SNV Uncertain significance 642248 2:98355854-98355854 2:97739391-97739391
24 ZAP70 NM_001079.3(ZAP70):c.1765G>A (p.Val589Met)SNV Uncertain significance 646832 2:98355866-98355866 2:97739403-97739403
25 ZAP70 NM_001079.3(ZAP70):c.791-3C>TSNV Uncertain significance 658581 2:98349757-98349757 2:97733294-97733294
26 ZAP70 NM_001079.3(ZAP70):c.1025T>C (p.Ile342Thr)SNV Uncertain significance 337634 rs142702703 2:98351118-98351118 2:97734655-97734655
27 ZAP70 NM_001079.3(ZAP70):c.1737-3C>TSNV Uncertain significance 337638 rs56249179 2:98355835-98355835 2:97739372-97739372
28 ZAP70 NM_001079.3(ZAP70):c.1832C>T (p.Thr611Ile)SNV Uncertain significance 337639 rs371359430 2:98355933-98355933 2:97739470-97739470
29 ZAP70 NM_001079.3(ZAP70):c.7G>C (p.Asp3His)SNV Uncertain significance 538567 rs1009114725 2:98340506-98340506 2:97724043-97724043
30 ZAP70 NM_001079.3(ZAP70):c.1415G>A (p.Arg472Gln)SNV Uncertain significance 538568 rs758807149 2:98354061-98354061 2:97737598-97737598
31 ZAP70 NM_001079.3(ZAP70):c.620C>T (p.Thr207Met)SNV Uncertain significance 546868 rs141564129 2:98349402-98349402 2:97732939-97732939

Expression for Zap70-Related Severe Combined Immunodeficiency

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

Pathways for Zap70-Related Severe Combined Immunodeficiency

GO Terms for Zap70-Related Severe Combined Immunodeficiency

Sources for Zap70-Related Severe Combined Immunodeficiency

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9 Cosmic
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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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