Article

Splice site and<i>de novo</i>mutations can cause mixed dominant negative/gain of function<i>PLCG2</i>-associated immune dysregulation with cold urticaria (CU-PLAID)

2024-03-19

Abstract excerpt

<h4>Background</h4> Phospholipase Cγ2 (PLCγ2) is an important signaling molecule that receives and transmits signals from various cell surface receptors in most hematopoietic lineages. Variants of PLCG2 cause PLCγ2-associated immune dysregulation (PLAID), a family of conditions that are classified by mutational effect. PLAID with cold urticaria (CU-PLAID) is caused by in-frame deletions of PLCG2 that are dominant...

Topics

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

Identifiers and source

Literature Corpus work: 79ecc63e-463b-5347-bbc7-ea997933d7a9
DOI: 10.1101/2024.03.16.24304180

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Splice site and<i>de novo</i>mutations can cause mixed dominant negative/gain of function<i>PLCG2</i>-associated immune dysregulation with cold urticaria (CU-PLAID)DOI 10.1101/2024.03.16.24304180Read

Splice site and de novo variants can cause PLCG2-associated immune dysregulation with cold urticaria.Semantic proximity Read

Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions.Semantic proximity Read

A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency.Semantic proximity Read

PLCG2-associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants.Semantic proximity Read

PLAID: a Syndrome of Complex Patterns of Disease and Unique Phenotypes.Semantic proximity Read

Distinct Cutaneous Manifestations and Cold-Induced Leukocyte Activation Associated With PLCG2 Mutations.Semantic proximity Read

PLCG2 exon-skipped variants: insights into their potential role in chronic lymphocytic leukemia.Semantic proximity Read

A Germline Mutation in the C2 Domain of PLCγ2 Associated with Gain-of-Function Expands the Phenotype for PLCG2-Related Diseases.Semantic proximity Read

PLCG2 across human disease: genetic variants, signaling mechanisms, and clinical implications.Semantic proximity Read

A new report of autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation (APLAID) with a homozygous pattern from Iran.Semantic proximity Read

When less is more: primary immunodeficiency with an autoinflammatory kick.Semantic proximity Read

Scalable generation and functional classification of genetic variants in inborn errors of immunity to accelerate clinical diagnosis and treatment.Semantic proximity Read