Novel Mutation of ZAP-70-related Combined Immunodeficiency: First Case from the National Iranian Registry and Review of the Literature.

about

Novel compound heterozygous mutations in ZAP70 in a Chinese patient with leaky severe combined immunodeficiency disorder.Functional Evaluation of an IKBKG Variant Suspected to Cause Immunodeficiency Without Ectodermal Dysplasia.

P2860

Q40357747-F68E969A-31D3-481F-99A6-F4141133FEDA Q41921141-FA017593-003F-4938-B601-B4732CB5DFFD

P2860

Novel Mutation of ZAP-70-related Combined Immunodeficiency: First Case from the National Iranian Registry and Review of the Literature.

Item

http://www.wikidata.org/entity/Q38985248

description

2016 nî lūn-bûn

@nan

2016年の論文

@ja

2016年学术文章

@wuu

2016年学术文章

@zh-cn

2016年学术文章

@zh-hans

2016年学术文章

@zh-my

2016年学术文章

@zh-sg

2016年學術文章

@yue

2016年學術文章

@zh

2016年學術文章

@zh-hant

name

Novel Mutation of ZAP-70-relat ...... and Review of the Literature.

@en

type

Item

label

Novel Mutation of ZAP-70-relat ...... and Review of the Literature.

@en

prefLabel

Novel Mutation of ZAP-70-relat ...... and Review of the Literature.

@en

P1476

Novel Mutation of ZAP-70-relat ...... y and Review of the Literature

@en

P2093

Glynis Frans

http://www.w3.org/2001/XMLSchema#string

Mohammad Shahrooei

http://www.w3.org/2001/XMLSchema#string

Xavier Bossuyt

http://www.w3.org/2001/XMLSchema#string

P2860

A novel human autoimmune syndrome caused by combined hypomorphic and activating mutations in ZAP-70

Human severe combined immunodeficiency due to a defect in ZAP-70, a T cell tyrosine kinase

ZAP-70 deficiency in an autosomal recessive form of severe combined immunodeficiency

Specific immunoglobulin E responses in ZAP-70-deficient patients are mediated by Syk-dependent T-cell receptor signalling

The Structural Basis for Activation and Inhibition of ZAP-70 Kinase Domain

A hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency.

Distinct T cell developmental consequences in humans and mice expressing identical mutations in the DLAARN motif of ZAP-70.

Zap70 is essential for long-term survival of naive CD8 T cells

Characteristics of TCRζ, ZAP-70, and FcɛRIγ gene expression in patients with T- and NK/T-cell lymphoma

Depletion of CD8+ cells in human thymic medulla results in selective immune deficiency

P304

70-79

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1080/08820139.2016.1214962

http://www.w3.org/2001/XMLSchema#string

P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P50

P577

2016-10-19T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

27759478

http://www.w3.org/2001/XMLSchema#string

Novel Mutation of ZAP-70-related Combined Immunodeficiency: First Case from the National Iranian Registry and Review of the Literature.

about

P2860

P2860

Novel Mutation of ZAP-70-related Combined Immunodeficiency: First Case from the National Iranian Registry and Review of the Literature.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698