Variant in the PLCG2 Gene May Cause a Phenotypic Overlap of APLAID/PLAID: Case Series and Literature Review

Background: Variants in the phospholipase C gamma 2 (PLCG2) gene can cause PLCG2-associated antibody deficiency and immune dysregulation (PLAID)/autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation (APLAID) syndrome. Linking the clinical phenotype with the genotype is r...

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Detalles Bibliográficos
Autores principales: Welzel, Tatjana, Oefelein, Lea, Holzer, Ursula, Müller, Amelie, Menden, Benita, Haack, Tobias B., Groβ, Miriam, Kuemmerle-Deschner, Jasmin B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9368933/
https://www.ncbi.nlm.nih.gov/pubmed/35955991
http://dx.doi.org/10.3390/jcm11154369

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9368933/
https://www.ncbi.nlm.nih.gov/pubmed/35955991
http://dx.doi.org/10.3390/jcm11154369

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