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...

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Publié dans:	Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 58(2020), 5 vom: 02. Mai, Seite 413-417
Auteur principal:	Yang, Q Y (Auteur)
Autres auteurs:	Jia, Y J, Wang, Y P, Zeng, T, Zhao, X D, Zhou, L N
Format:	Article en ligne
Langue:	Chinese
Publié:	2020
Accès à la collection:	Zhonghua er ke za zhi = Chinese journal of pediatrics
Sujets:	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