Loss of B Cells in Patients with Heterozygous Mutations in IKAROS. - Wikidata - awgldk - TriplyDB

Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.

Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.

http://www.wikidata.org/entity/Q30356529

about

Co-existence of IL7R high and SH2B3 low expression distinguishes a novel high-risk acute lymphoblastic leukemia with Ikaros dysfunction Common Variable Immunodeficiency Caused by FANC Mutations.Genetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency.Studying human immunodeficiencies in humans: advances in fundamental concepts and therapeutic interventions.Indications to Epigenetic Dysfunction in the Pathogenesis of Common Variable Immunodeficiency.Genes associated with common variable immunodeficiency: one diagnosis to rule them all?Dendritic cell analysis in primary immunodeficiency Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.Novel nonsense gain-of-function NFKB2 mutations associated with a combined immunodeficiency phenotype.The immunophenotypic fingerprint of patients with primary antibody deficiencies is partially present in their asymptomatic first-degree relatives.Normal hematologic parameters and fetal hemoglobin silencing with heterozygous IKZF1 mutations Genetic heterogeneity of uncharacterized childhood autoimmune diseases with lymphoproliferation.Germline IKAROS mutation associated with primary immunodeficiency that progressed to T-cell acute lymphoblastic leukemia.Phenotypic characterization of patients with rheumatologic manifestations of common variable immunodeficiency.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.Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans.Germline Genetic IKZF1 Variation and Predisposition to Childhood Acute Lymphoblastic Leukemia.Ikaros family zinc finger 1 regulates dendritic cell development and function in humans.Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology.CDG: An Online Server for Detecting Biologically Closest Disease-Causing Genes and its Application to Primary Immunodeficiency.

P2860

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P2860

Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.

http://www.wikidata.org/entity/Q30356529

description

2016 nî lūn-bûn

@nan

2016 թուականի Մարտին հրատարակուած գիտական յօդուած

@hyw

2016 թվականի մարտին հրատարակված գիտական հոդված

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2016年の論文

@ja

2016年論文

@yue

2016年論文

@zh-hant

2016年論文

@zh-hk

2016年論文

@zh-mo

2016年論文

@zh-tw

2016年论文

@wuu

name

Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.

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Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.

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type

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Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.

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Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.

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prefLabel

Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.

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Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.

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P1433

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The New England Journal of Medicine

P1476

Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.

@en

P2093

A Kumánovics

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

A Stray-Pedersen

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B B Wray

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E W Gelfand

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H R Hill

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H S Kuehn

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H S Sorte

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J E Niemela

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J K Abbott

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J S Bush

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P2860

Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency

Expression of dominant-negative and mutant isoforms of the antileukemic transcription factor Ikaros in infant acute lymphoblastic leukemia

Zinc finger-mediated protein interactions modulate Ikaros activity, a molecular control of lymphocyte development

Discovery of single-gene inborn errors of immunity by next generation sequencing

Congenital pancytopenia and absence of B lymphocytes in a neonate with a mutation in the Ikaros gene

Ikaros, an early lymphoid-specific transcription factor and a putative mediator for T cell commitment

Update in understanding common variable immunodeficiency disorders (CVIDs) and the management of patients with these conditions

Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4

Loci on 7p12.2, 10q21.2 and 14q11.2 are associated with risk of childhood acute lymphoblastic leukemia

Germline mutations in NFKB2 implicate the noncanonical NF-κB pathway in the pathogenesis of common variable immunodeficiency

P304

1032-1043

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scholarly article

P356

10.1056/NEJMOA1512234

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P433

11

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374

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Jean-Laurent Casanova

Bertrand Boisson

Charlotte Cunningham-Rundles

Janine Reichenbach

P577

2016-03-01T00:00:00Z

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26981933

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4836293

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