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Two Monogenetic Disorders Activated PI3-Kinase-δ Syndrome 2 and Smith–Magenis Syndrome in One Patient: Case Report and a Literature Review of Neurodevelopmental Impact in Primary Immunodeficiencies Associated With Disturbed PI3K Signaling

机译：两种单一的疾病活化的PI3-激酶-δ综合征2和史密斯 - Magenis综合征在一个患者中：病例报告和对与受扰动的PI3K信号相关的原发性免疫缺失的神经发育影响的文献综述

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期刊名称 Frontiers in Pediatrics
作者
Nidia Moreno-Corona; Loïc Chentout; Lucie Poggi; Romane Thouenon; Cecile Masson; Melanie Parisot; Lou Le Mouel; Capucine Picard; Isabelle André; Marina Cavazzana; Laurence Perrin; Anne Durandy; Saba Azarnoush; Sven Kracker;
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作者单位

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年(卷),期 2021(-1),-1
年度 2021
页码 -1
总页数 7
原文格式 PDF
正文语种
中图分类儿科学;
关键词

机译：APDS2;PI3K信号传导;PIK3R1;初级免疫缺陷;神经发育影响;

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1. Two Monogenetic Disorders, Activated PI3-Kinase-δ Syndrome 2 and Smith–Magenis Syndrome, in One Patient: Case Report and a Literature Review of Neurodevelopmental Impact in Primary Immunodeficiencies Associated With Disturbed PI3K Signaling [J] . Nidia Moreno-Corona, Marina Cavazzana, Laurence Perrin, Frontiers in Pediatrics . 2021,第a期

机译：两种单一的单一疾病，活化的PI3-激酶-δ综合征2和史密斯 - Magenis综合征，在一个患者中：病例报告和与干扰PI3K信号相关的原发性免疫缺失的神经发育影响的文献综述
2. Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith-Magenis and Potocki-Lupski Syndromes [J] . Juanita Neira-Fresneda, Lorraine Potocki Journal of pediatric genetics . 2015,第3期

机译：与异常基因剂量相关的神经发育障碍：史密斯 - Magenis和Potocki-lupski综合征
3. Congenital Scoliosis in Smith-Magenis Syndrome A Case Report and Review of the Literature [J] . Li Zheng, Shen Jianxiong, Liang Jinqian, Medicine. . 2015,第17期

机译：Smith-Magenis综合征先天性脊柱侧凸一例病例报告并文献复习
4. Alice in wonderland syndrome as an initial manifestation of pediatric magraine: One case report and literature review [C] . Jia Feiyong, Jiang Huiyi, Du Lin, . 2011

机译：爱丽丝梦游仙境综合征作为小儿偏头痛的初步表现：1例病例报告并文献复习
5. CD16xCD33 bispecific killer cell engager (BiKE) activates natural killer (NK) cells from myelodysplastic syndrome (MDS) patients against primary MDS and myeloidderived suppressor cell (MDSC) CD33-positive targets. [D] . Gleason, Michelle K. 2014

机译：CD16xCD33双特异性杀伤细胞接合剂（BiKE）激活来自骨髓增生异常综合征（MDS）患者的自然杀伤（NK）细胞，以抵抗原发性MDS和髓样抑制细胞（MDSC）CD33阳性靶标。
6. Genetic Advances in Intellectual Disability: Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith–Magenis and Potocki–Lupski Syndromes [O] . Juanita Neira-Fresneda, Lorraine Potocki 2015

机译：智力障碍的遗传学进展：与基因剂量异常相关的神经发育障碍：Smith–Magenis和Potocki–Lupski综合征
7. Two Monogenetic Disorders, Activated PI3-Kinase-δ Syndrome 2 and Smith–Magenis Syndrome, in One Patient: Case Report and a Literature Review of Neurodevelopmental Impact in Primary Immunodeficiencies Associated With Disturbed PI3K Signaling [O] . Nidia Moreno-Corona, Loïc Chentout, Lucie Poggi, 2021

机译：两种单一的疾病，活化的PI3-激酶-δ综合征2和史密斯 - Magenis综合征，在一个患者中：病例报告和对与受扰动的PI3K信号相关的原发性免疫缺失的神经发育影响的文献综述
8. Immunodeficiency Syndromes: Disorders of Lymphocytopoiesis Caused by Environmental Disorders. Annual Progress Report, January-August 1986 [R] . 1986

机译：免疫缺陷综合征：环境疾病引起的淋巴细胞生成障碍。年度进展报告，1986年1月至8月

Two Monogenetic Disorders Activated PI3-Kinase-δ Syndrome 2 and Smith–Magenis Syndrome in One Patient: Case Report and a Literature Review of Neurodevelopmental Impact in Primary Immunodeficiencies Associated With Disturbed PI3K Signaling

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