Clinical and immunological characteristics of a case with activated phosphoinositide 3-kinase δ syndrome 2
Objective: To analyze the clinical and immunological characteristics of a patient with activated phosphoinositide 3-kinase δ syndrome 2 (APDS2). Methods: A retrospective analysis of clinical data, immune-related gene sequencing, imaging and laboratory findings of a patient with APDS2 admitted to Chi...
Ausführliche Beschreibung
Bibliographische Detailangaben
| Veröffentlicht in: | Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 58(2020), 5 vom: 02. Mai, Seite 413-417
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| 1. Verfasser: |
Yang, Q Y
(VerfasserIn) |
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| Weitere Verfasser: |
Jia, Y J,
Wang, Y P,
Zeng, T,
Zhao, X D,
Zhou, L N |
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| Format: | Online-Aufsatz
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| Sprache: | Chinese |
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| Veröffentlicht: |
2020
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| Zugriff auf das übergeordnete Werk: | Zhonghua er ke za zhi = Chinese journal of pediatrics
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| Schlagworte: | Case Reports
Journal Article
Genes
Immunologic deficiency syndromes
Mutation
PIK3R1 protein, human
EC 2.7.1.-
Class I Phosphatidylinositol 3-Kinases
EC 2.7.1.137
Class Ia Phosphatidylinositol 3-Kinase |
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