Novel PIK3CG compound heterozygous variants cause inactivated PI3Kγsyndrome presenting as necrotizing enterocolitis in a preterm infantOA
Inactivated phosphoinositide 3-kinase gamma(PI3Kγ)syndrome(IPGS;OMIM#619802),an autosomal recessive immunologic disorder first described by Takeda et al in 2019,classically manifests in childhood with recurrent infections,pneumonia,and colitis.1 This disorder is caused by biallelic loss-of-function variants in the PIK3CG(OMIM*601,232),located at 7q22.3.
Wenting Zhang;Xiaoying Zhou;Bixia Zheng;Xinyi Yang;Yongcheng Ni;Dong Zhou;Chunli Wang
Central Laboratory of Pediatrics,Affiliated Changzhou Children''s Hospital of Nantong University,Changzhou,Jiangsu 213003,China Pharmaceutical Laboratory,Asthma and Bronchitis Research Center of Changzhou,Changzhou,Jiangsu 213003,ChinaCentral Laboratory of Pediatrics,Affiliated Changzhou Children''s Hospital of Nantong University,Changzhou,Jiangsu 213003,China Department of Neonatology,Affiliated Changzhou Children''s Hospital of Nantong University,Changzhou,Jiangsu 213003,ChinaNanjing Key Laboratory of Pediatrics,Children''s Hospital of Nanjing Medical University,Nanjing,Jiangsu 210008,ChinaCentral Laboratory of Pediatrics,Affiliated Changzhou Children''s Hospital of Nantong University,Changzhou,Jiangsu 213003,ChinaDepartment of Pediatric Intensive Care,Affiliated Changzhou Children''s Hospital of Nantong University,Changzhou,Jiangsu 213003,ChinaCentral Laboratory of Pediatrics,Affiliated Changzhou Children''s Hospital of Nantong University,Changzhou,Jiangsu 213003,ChinaNanjing Key Laboratory of Pediatrics,Children''s Hospital of Nanjing Medical University,Nanjing,Jiangsu 210008,China
医药卫生
Necrotizing enterocolitisInactivated PI K syndromePreterm infantIPGSPik cgBiallelic loss function variantsPhosphoinositide kinase gammaCompound heterozygous variants
《Genes & Diseases》 2026 (2)
P.46-49,4
supported by the China Postdoctoral Science Foundation(No.2021M700546)Changzhou Sci&Tech Program(China)(No.CE20235066,CE20225052)Key project of Changzhou Medical Center Affiliated to Nanjing Medical University(China)(No.CMCM202314)Clinical Research Project of Nantong University(China)(No.2019LY029).
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