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

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 an...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2019
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7086538/
https://www.ncbi.nlm.nih.gov/pubmed/31853824
http://dx.doi.org/10.1007/s10875-019-00731-3

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