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Article

[Clinical and genetic analysis for activated PI3K-δ syndrome by PIK3CD gene mutation].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Sept 2016

Liu H, Tang X L, Liu J R, Li H M, Zhao S Y

Abstract excerpt

OBJECTIVE: To analyze clinical and genetic features of activated PI3K-δ syndrome (APDS), a new form of immunodeficiency disease caused by PIK3CD gene mutation. METHOD: Data of two patients diagnosed as APDS at Second Department of Respiratory Medicine of Beijing Children's Hospital Affiliated to Capital Medical University in 2015 were retrospectively reviewed. Pathogenetic genes were screened by whole exome...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27596086
DOI: 10.3760/cma.j.issn.0578-1310.2016.09.013

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