A recurrent dominant negative E47 mutation causes agammaglobulinemia and BCR(-) B cells.
about
Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunityDiscovery of single-gene inborn errors of immunity by next generation sequencingLoss of B Cells in Patients with Heterozygous Mutations in IKAROS.Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegansLessons from Genetic Studies of Primary Immunodeficiencies in a Highly Consanguineous Population.Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies.Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficienciesAssociation of variants in BAFF (rs9514828 and rs1041569) and BAFF-R (rs61756766) genes with the risk of chronic lymphocytic leukemia.A novel immunodeficiency syndrome associated with partial trisomy 19p13.Human T Follicular Helper Cells in Primary Immunodeficiency: Quality Just as Important as Quantity.Indications to Epigenetic Dysfunction in the Pathogenesis of Common Variable Immunodeficiency.Targeting the bHLH transcriptional networks by mutated E proteins in experimental glioma.Here, there and everywhere: T follicular helper cells on the move.Cohort of Iranian Patients with Congenital Agammaglobulinemia: Mutation Analysis and Novel Gene Defects.Epistatic interactions between mutations of TACI (TNFRSF13B) and TCF3 result in a severe primary immunodeficiency disorder and systemic lupus erythematosus.Mechanisms of Mendelian dominance.Novel insights into FAS defects underlying autoimmune lymphoproliferative syndrome revealed by studies in consanguineous patients.Dried Blood Spots, an Affordable Tool to Collect, Ship, and Sequence gDNA from Patients with an X-Linked Agammaglobulinemia Phenotype Residing in a Developing Country.Common variable immunodeficiency (CVID): new genetic insight and unanswered questions.Delayed Diagnosis and Complications of Predominantly Antibody Deficiencies in a Cohort of Australian Adults.
P2860
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P2860
A recurrent dominant negative E47 mutation causes agammaglobulinemia and BCR(-) B cells.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年学术文章
@wuu
2013年学术文章
@zh-cn
2013年学术文章
@zh-hans
2013年学术文章
@zh-my
2013年学术文章
@zh-sg
2013年學術文章
@yue
2013年學術文章
@zh
2013年學術文章
@zh-hant
name
A recurrent dominant negative E47 mutation causes agammaglobulinemia and BCR
@nl
A recurrent dominant negative E47 mutation causes agammaglobulinemia and BCR(-) B cells.
@en
type
label
A recurrent dominant negative E47 mutation causes agammaglobulinemia and BCR
@nl
A recurrent dominant negative E47 mutation causes agammaglobulinemia and BCR(-) B cells.
@en
prefLabel
A recurrent dominant negative E47 mutation causes agammaglobulinemia and BCR
@nl
A recurrent dominant negative E47 mutation causes agammaglobulinemia and BCR(-) B cells.
@en
P2093
P2860
P50
P356
P1476
A recurrent dominant negative E47 mutation causes agammaglobulinemia and BCR(-) B cells
@en
P2093
Amma Bosompem
Annick Lim
Mary Ellen Conley
Tatiana Kochetkov
Yong-Dong Wang
P2860
P304
P356
10.1172/JCI71927
P407
P577
2013-11-01T00:00:00Z