Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Journal of clinical immunology - 1 Feb 2020

Novice Taylor, Kariminia Amina, Del Bel Kate L, Lu Henry, Sharma Mehul, Lim Chinten J, Read Jay, Lugt Mark Vander, Hannibal Mark C, O'Dwyer David, Hosler Mirie, Scharnitz Thomas, Rizzo Jason M, Zacur Jennifer, Priatel John, Abdossamadi Sayeh, Bohm Alexandra, Junker Anne, Turvey Stuart E, Schultz Kirk R, Rozmus Jacob

Abstract excerpt

We report three new cases of a germline heterozygous gain-of-function missense (p.(Met1141Lys)) mutation in the C2 domain of phospholipase C gamma 2 (PLCG2) associated with symptoms consistent with previously described auto-inflammation and phospholipase Cγ2 (PLCγ2)-associated antibody deficiency and immune dysregulation (APLAID) syndrome and pediatric common variable immunodeficiency (CVID). Functional...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Autoimmunity
Share to B-Lymphocytes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Calcium Signaling

Share to Common Variable Immunodeficiency

Share to Germ-Line Mutation

Share to Immunologic Deficiency Syndromes

Share to Phospholipase C gamma

Share to Protein Domains

Source

Open in PubMed Open full text

Identifiers

PMID: 31853824
DOI: 10.1007/s10875-019-00731-3
PMCID: PMC7086538

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Germline Mutation in the C2 Domain of PLCγ2 Associated with Gain-of-Function Expands the Phenotype for PLCG2-Related Diseases.PMID 31853824Read ↗

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

Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations.Semantic proximity Read ↗

The role of PLCγ2 in immunological disorders, cancer, and neurodegenerationSemantic proximity Read ↗

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

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

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

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

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

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)Semantic proximity Read ↗

Dysfunction of phospholipase Cγ in immune disorders and cancer.Semantic proximity Read ↗

Connecting two pathways through Ca 2+ signaling: NLRP3 inflammasome activation induced by a hypermorphic PLCG2 mutation.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.