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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...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer Health
2019
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| 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 |