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A mutation in PIK3CD gene causing pediatric systemic lupus erythematosus: A case report

RATIONALE: Gain of function (GOF) mutations in PIK3CD gene encoding PI3K p110δ were recently associated with a novel combined immune deficiency characterized by recurrent sinopulmonary infections, CD(4)(+) lymphopenia, reduced class-switched memory B cells, lymphadenopathy, cytomegalovirus and/or ep...

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Detalles Bibliográficos
Autores principales: Li, Guo-Min, Liu, Hai-Mei, Guan, Wan-Zhen, Xu, Hong, Wu, Bing-Bing, Feng, Jia-Yan, Sun, Li
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6504300/
https://www.ncbi.nlm.nih.gov/pubmed/31045771
http://dx.doi.org/10.1097/MD.0000000000015329

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