孩子才6岁大，却有反复呼吸道感染4å¹´ï

*娄卢娄娄娄露楼陇赂陇赂漏篓楼炉录陇禄陇戮楼禄楼颅娄陇赂陇赂陇潞潞楼拢芦漏篓炉禄楼篓

篓颅娄娄楼搂芦搂录潞漏路娄搂搂戮搂娄篓麓楼楼陇楼录楼赂漏娄娄

楼篓娄楼楼赂赂陇赂麓楼潞篓炉搂篓驴搂篓陇赂颅炉录娄戮搂垄掳楼掳篓驴篓驴陇鹿陇赂陇赂陋楼楼鲁楼颅漏炉录

6楼虏楼陇搂炉录楼麓娄4楼鹿麓楼楼陇楼录楼赂漏娄娄炉录陇赂禄篓娄篓隆篓搂掳陇赂潞楼楼陇楼鲁楼陆拢楼鲁搂掳炉录陇录麓漏录禄楼隆炉录楼露娄楼搂颅拢

篓碌路楼楼陇篓炉娄颅陇赂潞陇赂楼录楼赂漏娄娄炉录搂禄篓驴娄虏禄搂楼炉录搂搂露楼篓陆禄炉录楼麓陇赂搂麓楼楼陇炉录娄楼庐露楼卤篓炉娄楼篓炉麓楼掳卤娄炉垄娄虏隆娄楼楼陆篓驴楼楼陇漏垄拢

篓篓驴2楼鹿麓娄楼炉录娄拢楼驴搂楼鲁楼陆搂搂露篓露娄楼篓露楼楼庐鲁炉录楼篓潞楼炉漏禄楼搂禄娄鹿驴娄搂楼掳漏鲁炉录篓篓 垄 娄炉娄掳搂庐隆篓潞搂 垄

炉录漏篓篓炉娄虏禄搂娄娄楼路庐炉录漏篓娄陇陆漏垄娄虏禄搂炉录篓陇赂陇陆漏垄搂漏垄搂漏娄赂漏垄搂鹿炉录篓潞搂搂搂篓楼潞娄陇鹿篓露楼陇赂楼漏拢篓潞漏篓娄娄楼搂掳楼陇楼拢娄垄娄搂楼篓驴篓隆娄搂楼漏搂鹿搂鹿拢

漏陇篓潞漏篓娄娄楼陇炉录娄拢楼驴篓驴1楼鹿麓娄楼篓驴楼楼鹿露娄垄娄搂楼篓娄搂陇赂颅篓鲁搂拢篓潞芦娄搂庐楼掳搂颅陇赂麓楼潞篓隆篓搂掳拢楼楼漏垄楼10陇赂陋娄炉录楼楼楼陇楼录楼赂漏娄娄炉录篓篓垄陇陆篓麓篓楼路庐垄炉录楼篓楼陇漏垄楼陇娄卢隆篓戮娄鲁篓陇赂搂搂搂篓搂陆娄虏禄搂炉录楼庐露楼卤篓炉垄娄娄娄垄炉录陇陆垄娄娄娄虏隆楼娄鲁娄搂禄颅陇赂陇赂陇陇赂陋娄垄炉录楼掳卤楼楼录楼搂楼戮垄篓潞搂垄陇潞拢

娄陇禄卢楼炉鹿娄拢楼驴篓驴篓隆陇潞篓炉娄搂禄搂娄楼陇陆炉录T 36.5垄炉录R 40娄卢隆/楼炉录P 118娄卢隆/楼炉录BP 130/68 mmHg炉录SPO2 98%炉录陇陆漏搂搂篓隆芦11kg炉录<-3SD)炉录篓潞芦漏芦95cm炉录<-3SD)炉录楼陇麓楼麓50cm炉录P25-P75炉录拢楼炉陇禄楼搂楼潞炉录娄拢楼驴陇赂陇陆篓潞芦娄搂庐楼掳炉录篓驴娄漏楼潞娄篓楼楼禄陇赂篓炉篓虏拢

篓潞漏篓陇陆楼戮搂鹿搂鹿炉录 楼录楼赂陇驴炉录楼篓潞楼炉漏禄楼楼陇搂漏陇赂颅搂禄娄鹿驴楼掳漏鲁炉录陇禄楼楼陇戮搂陇赂篓潞陇赂潞陇赂禄拢

篓潞楼陇陇陆楼戮搂鹿搂鹿炉录 楼篓篓潞芦楼陇楼娄路楼路麓搂禄篓驴楼陇搂炉录篓篓戮篓驴楼陇搂拢楼陇戮搂篓鲁楼拢篓鲁楼拢漏垄陇赂拢漏垄漏篓拢漏漏陋篓陇赂拢篓搂陋拢篓鹿篓隆娄虏楼楼炉娄陋楼篓驴楼陇搂娄路楼路麓搂禄炉录娄楼陇搂陇陆陇潞楼陇戮搂漏垄陇赂炉录搂潞娄3cm2cm炉录篓麓篓漏搂炉录娄搂虏篓驴炉录娄楼搂炉录篓陇赂搂陇陆陇潞楼鲁漏漏陋篓陇赂颅搂潞驴搂卢卢陇潞篓炉录篓陇赂搂篓陇赂搂潞娄6cm楼炉篓搂娄楼拢楼搂陋陇赂10cm楼炉篓搂娄楼炉录篓戮篓垄搂潞驴10cm拢垄隆搂潞驴11cm拢垄垄搂潞驴0cm炉录楼篓麓篓篓陆炉炉录娄楼搂拢

娄拢楼驴娄戮楼陇娄卢隆篓隆篓隆楼赂赂篓搂楼CRP搂颅娄拢娄楼炉录搂陆搂禄篓篓庐隆娄掳娄颅拢楼赂赂篓楼麓娄楼陇陆炉录陇禄楼陇赂颅娄搂搂虏搂禄篓陇赂潞陇赂禄炉录CRP娄颅拢楼赂赂娄楼漏芦炉录娄搂鹿搂鹿楼炉楼炉禄炉录搂楼娄陋篓搂娄娄戮楼录楼赂赂炉录篓赂搂搂陇潞楼篓潞搂搂娄赂楼潞炉录篓篓篓潞漏篓娄娄拢

楼戮1.娄拢娄楼娄露漏麓炉录6娄 拢9娄

楼戮2.娄拢娄楼娄露漏麓炉录10娄拢11娄

娄拢楼驴楼楼陇楼录楼赂漏娄娄炉录楼楼鹿露娄篓篓戮娄路楼路麓搂禄篓驴楼陇搂炉录陇赂娄漏陇楼搂芦搂录潞漏路娄搂搂戮搂炉录陇潞楼庐楼2娄卢隆楼搂芦搂篓搂陆娄拢娄楼炉录IgM娄掳麓楼鹿鲁楼漏芦炉录IgA/G娄掳麓楼鹿鲁娄陋漏陇陆拢

陇赂篓驴掳搂禄娄娄麓楼娄炉娄娄拢楼驴陇赂潞楼搂芦搂录潞漏路娄搂搂戮搂娄篓麓楼楼陇楼录楼赂漏娄娄炉录搂禄楼庐露楼卤楼娄炉录陇潞娄拢楼驴楼楼露搂露娄炉篓隆楼潞楼娄拢娄楼炉录搂禄娄娄搂陇潞搂露娄炉楼娄陋娄拢娄碌楼掳篓炉楼楼楼录炉录娄拢楼驴楼颅楼篓PIK3CD楼潞楼搂陋楼拢楼潞楼搂赂楼鲁搂戮搂炉录楼搂芦搂录潞漏路14楼拢

篓鲁娄颅陇炉录搂禄陇潞搂楼漏娄拢楼驴陇赂潞陇禄陇鹿楼楼陇楼潞搂掳楼录楼赂漏娄娄陇潞垄垄PI3K麓篓驴楼潞娄娄麓禄楼搂禄录楼楼戮炉录

PI3K麓篓驴楼潞娄娄麓禄楼搂禄录楼楼戮

炉录Activated PI3K-Delta Syndrome炉录APDS炉录炉录

陇赂搂搂搂陆篓搂搂楼楼娄搂楼搂芦搂录潞漏路搂炉录Primary Immunodeficiency炉录PID炉录炉录陇禄楼楼楼陇楼录楼赂漏搂禄篓娄娄楼楼搂芦楼陇卤篓掳陇赂潞陇赂禄篓娄篓隆篓搂掳拢陇赂潞搂录搂IA搂卤禄搂拢路篓漏掳篓漏3娄驴漏露搂楼潞楼搂陋楼娄篓麓炉录陇赂潞楼赂赂娄篓虏陇陆娄戮娄搂娄鹿楼录漏陇录拢搂庐楼楼路虏搂楼漏2陇赂陋楼潞楼搂陋楼楼炉陇禄楼楼炉录篓麓APDS炉录

PIK3CD娄PIK3R1搂陋楼楼PI3K麓楼篓陆楼垄楼录潞炉录漏篓驴PI3K-AKT-mTOR陇驴隆楼路漏篓路炉炉录楼炉录篓麓AKT/mTOR篓驴楼潞娄娄麓禄楼炉录陇赂娄鹿漏垄陇驴篓驴搂鲁漏碌篓搂拢拢篓篓麓篓楼娄楼篓搂陆楼娄炉录楼娄陇赂娄鹿漏垄娄楼露FOXO1炉录楼楼陇麓娄隆篓搂陆1炉录炉录娄楼露楼鹿录搂篓CD4+T搂禄篓楼Th搂禄篓楼楼炉录楼炉录篓麓CD8+T搂禄篓篓驴楼潞娄娄麓禄楼拢篓隆掳篓拢娄颅禄陇潞隆炉录楼露楼炉鹿CMV拢EBV搂娄赂漏陇篓陆楼陇赂漏炉录楼陇楼篓篓隆CD4+T搂录潞陇鹿炉录娄潞陇陆搂禄篓楼搂芦拢T搂禄篓陇戮篓碌娄搂楼搂芦楼楼潞拢楼搂芦搂娄搂楼篓陆搂录潞漏路拢陇陆驴B搂禄篓楼篓漏陋篓漏芦陇赂颅搂楼篓虏楼楼陆卤楼炉录陇陆娄露虏楼搂芦搂录潞漏路炉录篓陇赂娄楼露楼搂芦搂篓搂陆搂卤禄楼芦篓陆卢娄垄楼篓陆漏搂垄炉录楼潞搂掳漏芦IgM篓隆搂炉录IgG楼IgA娄掳麓楼鹿鲁娄颅拢楼赂赂娄篓陆禄楼潞娄陇赂漏拢

楼戮3.楼陇娄鲁篓炉录篓戮漏漏PI3K-AKT-mTOR陇驴隆楼路漏篓路炉

娄陇禄楼炉录PI3K麓篓驴楼潞娄娄麓禄楼搂禄录楼楼戮陇赂麓楼潞篓隆篓搂掳陇赂潞垄娄娄垄楼垄楼搂芦楼陇卤篓掳垄拢

搂潞娄34%娄拢楼驴楼颅楼篓楼搂芦娄搂篓隆搂禄篓楼楼掳炉录篓陋篓潞芦楼搂芦楼楼庐陇陆楼篓楼庐娄隆陇禄露楼陇篓搂拢陇赂麓楼潞陇赂禄篓娄篓隆篓搂掳陇赂潞篓隆楼掳娄驴楼楼录搂露篓楼掳娄搂搂麓芦搂拢coombs漏鲁娄搂搂娄潞露篓隆娄搂篓麓芦篓隆拢陇赂颅娄搂搂虏搂禄篓楼楼掳搂拢楼鹿录楼鹿麓楼鲁篓搂拢篓戮楼掳搂篓戮搂拢搂虏搂露篓潞搂楼搂隆卢楼娄搂篓搂庐隆搂拢

漏陇娄颅陇陇鹿楼陇炉录搂卤陇潞陇驴隆楼路篓驴楼潞娄娄麓禄楼炉录楼搂芦搂鲁禄搂禄楼陇卤篓掳炉录篓麓搂娄陆篓陆篓垄芦篓掳漏芦炉录娄路楼路麓搂鲁禄搂禄娄露娄搂篓驴搂陇娄娄娄搂楼垄漏芦炉录娄拢楼驴楼炉篓陆楼潞搂掳娄路楼路麓搂陇拢

篓陆搂露APDS娄搂楼娄陇赂搂陇赂麓楼潞篓隆篓搂掳楼篓戮楼漏娄拢娄楼搂鹿搂鹿炉录楼麓陇赂篓陆楼楼陇戮漏陇赂麓楼潞篓隆篓搂掳楼娄拢娄楼楼掳卤楼楼潞篓炉娄颅拢

陇赂潞陇禄陇鹿炉录楼陇赂潞楼庐漏陇赂麓楼潞陇赂颅炉录APDS搂陇赂麓楼潞楼楼搂芦篓隆篓楼楼楼炉楼楼录娄搂炉录娄陇潞篓陆禄搂娄拢篓炉录楼掳娄楼鹿麓陇禄娄娄娄戮陇赂麓楼潞篓隆篓搂掳炉录篓娄陇潞漏搂娄拢楼驴炉录楼篓楼鹿录楼驴娄露娄楼掳卤楼潞搂掳陇赂楼漏篓麓娄颅禄娄搂楼搂芦搂录潞漏路拢

APDS楼炉篓陆陇录陇赂陇赂楼搂戮搂楼潞搂掳搂卤禄陇录录搂陇赂麓楼潞篓隆篓搂掳娄娄拢娄楼搂禄娄炉录漏篓娄陇赂陇鹿篓驴篓隆漏麓楼芦篓炉娄颅炉录篓楼漏麓楼芦楼掳漏戮炉录漏楼庐楼楼潞楼娄拢娄楼炉录陇禄楼娄搂隆庐篓炉娄颅拢

楼戮4

楼戮5

楼戮6

娄虏禄搂娄鹿漏垄炉录陇赂禄篓娄楼娄卢4陇赂陋娄鹿漏垄炉录漏虏娄颅垄娄娄拢漏路楼赂漏搂麓漏露篓搂陆娄楼露楼拢PI3K娄楼露楼楼漏篓隆楼鹿虏搂禄篓搂搂禄娄陇拢

楼戮7

漏搂楼炉鹿篓炉楼搂陇驴隆楼路漏篓路炉搂搂搂漏露楼篓庐陇篓炉炉录娄虏禄搂娄鹿漏垄陇赂禄篓娄漏陇赂颅楼篓篓炉楼陇驴隆楼路漏篓路炉漏篓娄搂楼楼颅篓搂陆娄楼露楼陇赂炉录楼鲁漏路楼赂漏搂麓漏露篓搂陆娄楼露楼楼PI3K娄楼露楼拢

楼露陇赂颅炉录漏路楼赂漏搂麓楼路虏篓驴搂篓陇潞陇赂麓楼潞陇赂炉录楼庐漏篓驴漏禄娄颅陇驴隆楼路漏篓路炉陇赂娄赂赂炉录篓碌路搂娄搂楼露娄潞露篓隆拢楼楼掳娄路楼路麓搂禄篓陇陆搂搂炉楼娄搂楼露篓戮楼陇搂搂陇陆搂篓炉录陇赂麓楼潞楼禄潞篓庐庐篓碌路楼搂楼漏炉录1~2mg/炉录拢隆路d炉录炉录楼鹿露搂禄麓娄篓隆篓炉娄碌楼潞娄炉录4.3~11.8录g/L炉录篓炉楼篓隆篓炉娄碌楼潞娄娄拢楼驴娄娄娄戮楼炉陇陆搂篓拢

PI3K娄楼露楼漏禄娄颅陇驴隆楼路漏篓路炉陇赂娄赂赂篓篓碌路娄虏禄搂陇陆搂篓炉录陇陆搂庐楼楼露篓炉搂漏陇禄楼陇陇潞陇赂麓楼潞楼庐漏陋漏露娄庐碌炉录楼篓娄颅陇陇赂楼陇楼陇禄搂禄拢

楼戮8.漏路楼赂漏搂麓陇陆搂篓陇陆搂鹿拢PI3K娄楼露楼陇陆搂篓陇陆搂鹿

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[1]Olbrich P, Lorenz M, Cura DP, et al. Activated PI3K麓 syndrome type 2: Two patients, a novel mutation and review of the literature[J] Pediatr Allergy Immunol, 2016, 27(6):640-644.

[2]Angulo I, Vadas O, Gar搂on F, et al. Phosphoinositide 3-kinase 麓 gene mutation predisposes to respiratory infection and airway damage. Science. 2013. 342(6160): 866-71.

[3]Deau MC, Heurtier L, Frange P, et al. A human immunodeficiency caused by mutations in the PIK3R1 gene. J Clin Invest. 2014. 124(9): 3923-8.

[4]Wray-Dutra MN, Al QF, Metzler G, Oukka M, James RG, Rawlings DJ. Activated PIK3CD drives innate B cell expansion yet limits B cell-intrinsic immune responses. J Exp Med. 2018. 215(10): 2485-2496.

[5]Coulter TI, Chandra A, Bacon CM, et al. Clinical spectrum and features of activated phosphoinositide 3-kinase 麓 syndrome: A large patient cohort study[J]. J Allergy Clin Immunol, 2017, 139(2):597-606.

[6]Rae W, Ramakrishnan KA, Gao Y, et al. Precision treatment with sirolimus in a case of activated phosphoinositide 3 kinase 麓 syndrome.[J]. Clin Immunol, 2016, 171:38-40. DOI:10.1016/j.clim.2016.07.017

[7]Nademi Zea. Hematopoietic stem cell transplant in patients with activated PI3K delta syndrome. J Allergy Clin Immunol. 2017. Volume 139(Issue 3): 1046 - 1049.

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