Article

Novel<i>SYK</i>variant causes enhanced SYK autophosphorylation and PI3K activation in an antibody-deficient patient

2025-04-11

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> Inborn errors of immunity (IEI) affecting B-cell receptor signaling cause predominantly antibody deficiency (PAD) with varying degrees of severity. Recently, four heterozygous variants in SYK were reported to cause hypogammaglobulinemia, multiorgan inflammatory disease and diffuse large B-cell lymphoma. <h4>Objective</h4> We aimed to unravel the genetic and functional cause of...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: def8762b-5939-53e9-9ca9-be8811efad35
DOI: 10.1101/2025.04.10.25325434

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Novel<i>SYK</i>variant causes enhanced SYK autophosphorylation and PI3K activation in an antibody-deficient patientDOI 10.1101/2025.04.10.25325434Read

Syk protein inhibitors treatment for the allergic symptoms associated with hyper immunoglobulin E syndromes: A focused on a computational approach.Semantic proximity Read

Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice.Semantic proximity Read

Hyperactivation of the PI3K pathway in inborn errors of immunity: current understanding and therapeutic perspectivesSemantic proximity Read

A Novel STK4 Mutation Impairs T Cell Immunity Through Dysregulation of Cytokine-Induced Adhesion and Chemotaxis Genes.Semantic proximity Read

The JAK/STAT conundrum with mutational heterogeneity, immune defects, and the emergence of targeted therapies.Semantic proximity Read

STK4 deficiency underlies impaired interferon signaling and T cell immunitySemantic proximity Read

Gain-of-function mutation in PIK3R1 in a patient with a narrow clinical phenotype of respiratory infections.Semantic proximity Read

Dysfunctional BLK in common variable immunodeficiency perturbs B-cell proliferation and ability to elicit antigen-specific CD4+ T-cell help.Semantic proximity Read

Girls homozygous for an IL-2–inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferationSemantic proximity Read

Combined immunodeficiency and impaired PI3K signaling in a patient with biallelic LCP2 variants.Semantic proximity Read

XLP: clinical features and molecular etiology due to mutations in SH2D1A encoding SAP.Semantic proximity Read