Successful haploidentical hematopoietic stem cell transplantation for activated phosphoinositide 3-kinase δ syndrome: Case report and literature review

Activated phosphoinositide 3-kinase δ syndrome (APDS), a recently described primary immunodeficiency,is caused by autosomal dominant mutation in the phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta(PIK3CD) gene encoding the p110δ catalytic subunit of PI3Kδ (APDS1) or the PIK3R1...

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Veröffentlicht in:	Medicine (Baltimore) 2023-02, Vol.102 (5), p.e32816-e32816
Hauptverfasser:	Yang, Xiaolan, Xi, Rui, Bai, Jiaofeng, Pan, Yaozhu
Format:	Artikel
Sprache:	eng
Schlagworte:	Child Class I Phosphatidylinositol 3-Kinases - genetics Clinical Case Report Cryptosporidiosis - drug therapy Cryptosporidium Female Hematopoietic Stem Cell Transplantation Humans Immunologic Deficiency Syndromes - genetics Male Mutation Phosphatidylinositol 3-Kinase Phosphatidylinositol 3-Kinases - genetics Primary Immunodeficiency Diseases Quality of Life Sirolimus - therapeutic use
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