Activated PI3K Delta Syndrome Caused by PIK3CD Gene Mutation：Clinical and Genetic Variation Analyses of One Case
HE Bo，CUI Qingyang，LU Jun*
Central South University Xiangya School of Medicine Affiliated Haikou Hospital，Haikou 570208，China
*Corresponding author：LU Jun，Professor；E-mail：Lu139762@163.com
何波,崔清洋,逯军. PIK3CD基因变异致活化的PI3Kδ综合征一例临床资料及基因变异分析[J]. 中国全科医学, 2020, 23(30): 3859-3863. DOI: 10.12114/j.issn.1007-9572.2020.00.275.
HE Bo,CUI Qingyang,LU Jun. Activated PI3K Delta Syndrome Caused by PIK3CD Gene Mutation：Clinical and Genetic Variation Analyses of One Case [J]. Chinese General Practice, 2020, 23(30): 3859-3863. DOI: 10.12114/j.issn.1007-9572.2020.00.275.
［1］ANGULO I，VADAS O，GAR?ON F，et al．Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage［J］．Science，2013，342（6160）：866-871．DOI：10.1126/science.1243292.
［2］COULTER T I，CHANDRA A，BACON C M，et al．Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome：a large patient cohort study［J］．J Allergy Clin Immunol，2017，139（2）：597-606.e4．DOI：10.1016/j.jaci.2016.06.021.
［3］RICHARDS S，AZIZ N，BALE S，et al．Standards and guidelines for the interpretation of sequence variants：a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology［J］．Genet Med，2015，17（5）：405-424．DOI：10.1038/gim.2015.30.
［4］LUCAS C L，KUEHN H S，ZHAO F，et al．Dominant-activating germline mutations in the gene encoding the PI（3）K catalytic subunit p110δ result in T cell senescence and human immunodeficiency［J］．Nat Immunol，2014，15（1）：88-97．DOI：10.1038/ni.2771.
［5］SUáREZ-FUEYO A，BARBER D F，MARTíNEZ-ARA J，et al．Enhanced phosphoinositide 3-kinase δ activity is a frequent event in systemic lupus erythematosus that confers resistance to activation-induced T cell death［J］．J Immunol，2011，187（5）：2376-2385．DOI：10.4049/jimmunol.1101602.
［6］刘辉，唐晓蕾，刘金荣，等．PIK3CD基因突变所致激活PI3K-δ综合征的临床特点和基因分析［J］．中华儿科杂志，2016，54（9）：698-702．DOI：10.3760/cma.j.issn.0578-1310.2016.09.013.
LIU H，TANG X L，LIU J R，et al．Clinical and genetic analysis for activated PI3K-δ syndrome by PIK3CD gene mutation［J］．Chinese Journal of Pediatrics，2016，54（9）：698-702．DOI：10.3760/cma.j.issn.0578-1310.2016.09.013.
［7］TAKEDA A J，ZHANG Y，DORNAN G L，et al．Novel PIK3CD mutations affecting N-terminal residues of p110δ cause activated PI3Kδ syndrome （APDS） in humans［J］．J Allergy Clin Immunol，2017，140（4）：1152-1156.e10．DOI：10.1016/j.jaci.2017.03.026.
［8］TSUJITA Y，MITSUI-SEKINAKA K，IMAI K，et al．Phosphatase and tensin homolog （PTEN） mutation can cause activated phosphatidylinositol 3-kinase δ syndrome-like immunodeficiency［J］．J Allergy Clin Immunol，2016，138（6）：1672-1680.e10．DOI：10.1016/j.jaci.2016.03.055.
［9］唐红霞，尹薇.激活PI3K-δ综合征合并关节炎1例并文献复习［J］．临床儿科杂志，2018，36（11）：858-861．DOI：10.3969/j.issn.1000-3606.2018.11.014.
TANG H X，YIN W.Activated phosphoinositide 3-kinase δ syndrome with arthritis：a case report and literature review［J］．Journal of Clinical Pediatrics，2018，36（11）：858-861．DOI：10.3969/j.issn.1000-3606.2018.11.014.
［10］ELKAIM E，NEVEN B，BRUNEAU J，et al．Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2：a cohort study［J］．J Allergy Clin Immunol，2016，138（1）：210-218.e9．DOI：10.1016/j.jaci.2016.03.022.
［11］COULTER T I，CHANDRA A，BACON C M，et al．Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome：a large patient cohort study［J］．J Allergy Clin Immunol，2017，139（2）：597-606.e4．DOI：10.1016/j.jaci.2016.06.021.
［12］DEAU M C，HEURTIER L，FRANGE P，et al．A human immunodeficiency caused by mutations in the PIK3R1 gene［J］．J Clin Invest，2015，125（4）：1764-1765．DOI：10.1172/JCI81746.
［13］LUCAS C L，ZHANG Y，VENIDA A，et al．Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K［J］．J Exp Med，2014，211（13）：2537-2547．DOI：10.1084/jem.20141759.
［14］RAO V K，WEBSTER S，DALM V A S H，et al．Effective “activated PI3Kdelta syndrome”-targeted therapy with the PI3Kdelta inhibitor leniolisib［J］．Blood，2017，130（21）：2307-2316．DOI：10.1182/blood-2017-08-801191.
