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

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About: A Germline Mutation in the C2 Domain of PLCγ2 Associated with Gain-of-Function Expands the Phenotype for PLCG2-Related Diseases Goto Sponge NotDistinct Permalink

An Entity of Type : schema:ScholarlyArticle, within Data Space : covidontheweb.inria.fr associated with source document(s)

Attributes	Values
type	Academic Article research paper schema:ScholarlyArticle
isDefinedBy	Covid-on-the-Web dataset
has title	A Germline Mutation in the C2 Domain of PLCγ2 Associated with Gain-of-Function Expands the Phenotype for PLCG2-Related Diseases
Creator	Junker, Anne Lugt, Mark Rozmus, Jacob Schultz, Kirk Turvey, Stuart Abdossamadi, Sayeh Bohm, Alexandra Del Bel, Kate Hannibal, Mark Hosler, Mirie Kariminia, Amina Lim, Chinten Lu, Henry Novice, Taylor O'dwyer, David Priatel, John Read, Jay Rizzo, Jason Scharnitz, Thomas Sharma, Mehul Zacur, Jennifer
Source	Medline; PMC
abstract	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 evaluation showed platelet hyper-reactivity, increased B cell receptor-triggered calcium influx and ERK phosphorylation. Expression of the altered p.(Met1141Lys) variant in a PLCγ2-knockout DT40 cell line showed clearly enhanced BCR-triggered influx of external calcium when compared to control-transfected cells. Our results further expand the molecular basis of pediatric CVID and phenotypic spectrum of PLCγ2-related defects. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1007/s10875-019-00731-3) contains supplementary material, which is available to authorized users.
has issue date	2019-12-19(xsd:dateTime)
bibo:doi	10.1007/s10875-019-00731-3
bibo:pmid	31853824
has license	no-cc
sha1sum (hex)	25b276f6ffc17770b276f19ee470b644ecb95ea9
schema:url	https://doi.org/10.1007/s10875-019-00731-3
resource representing a document's title	A Germline Mutation in the C2 Domain of PLCγ2 Associated with Gain-of-Function Expands the Phenotype for PLCG2-Related Diseases
has PubMed Central identifier	PMC7086538
has PubMed identifier	31853824
schema:publication	J Clin Immunol
resource representing a document's body	covid:25b276f6ffc17770b276f19ee470b644ecb95ea9#body_text
is schema:about of	named entity 'Our' named entity 'phosphorylation' named entity 'antibody deficiency' named entity 'germline' named entity 'Diseases' named entity 'BCR' named entity 'INCREASED' named entity 'GAIN' named entity 'ERK' named entity 'PLC' named entity 'PREVIOUSLY' named entity 'MISSENSE' named entity 'PLATELET' named entity 'REACTIVITY' named entity 'PEDIATRIC' named entity 'OF-' named entity 'SYNDROME' named entity 'CVID' named entity 'molecular' named entity 'evaluation' named entity 'spectrum' named entity 'basis' named entity 'Phenotype' named entity 'phospholipase' named entity 'platelet' named entity 'BCR' named entity 'missense' named entity 'calcium influx' named entity 'ERK' named entity 'common variable immunodeficiency' named entity 'Gain-of-Function' named entity 'PLCG2' named entity 'Expression' named entity 'streptomycin' named entity 'CVID' named entity 'cloned' named entity 'CD38' named entity 'citrate' named entity 'inositol 1,4,5-trisphosphate' named entity 'platelets' named entity 'inositol 1,4,5-trisphosphate' named entity 'respiratory infections' named entity 'CD19+' named entity 'dbSNP' named entity 'Staphylococcus aureus' named entity 'cell apoptosis' named entity 'antigen' named entity 'pathogenicity' named entity 'secretion' named entity 'PLCγ2' named entity 'causative relationship' named entity 'autoinhibitory' named entity 'adapter protein' named entity 'DAG' named entity 'calcium binding' named entity 'PLCγ2' named entity 'institutional review board' named entity 'translocation' named entity 'lipase' named entity 'germline mutation' named entity 'PLCγ2'

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