共查询到20条相似文献，搜索用时 12 毫秒
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Louise-Eva Vandenborght Raphaël Enaud Charlotte Urien Noémie Coron Pierre-Olivier Girodet Stéphanie Ferreira Patrick Berger Laurence Delhaes 《The Journal of allergy and clinical immunology》2021,147(4):1296-1305.e6
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Anh N. Do Yoojin Chun Galina Grishina Alexander Grishin Angela J. Rogers Benjamin A. Raby Scott T. Weiss Alfin Vicencio Eric E. Schadt Supinda Bunyavanich 《The Journal of allergy and clinical immunology》2021,147(3):879-893
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Xingnan Li Stephanie A. Christenson Brian Modena Huashi Li William W. Busse Mario Castro Loren C. Denlinger Serpil C. Erzurum John V. Fahy Benjamin Gaston Annette T. Hastie Elliot Israel Nizar N. Jarjour Bruce D. Levy Wendy C. Moore Prescott G. Woodruff Naftali Kaminski Sally E. Wenzel Deborah A. Meyers 《The Journal of allergy and clinical immunology》2021,147(3):894-909
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《The Journal of allergy and clinical immunology》2019,143(5):1803-1810.e2
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《European journal of medical genetics》2020,63(8):103953
Atypical haemolytic uraemic syndrome and steroid-resistant nephrotic syndrome are highly rare kidney diseases that can occur in childhood. In some cases, genetic variants may trigger these conditions, although in atypical haemolytic uraemic syndrome they mostly confer only a predisposition to the disease. Most variants causing atypical haemolytic uraemic syndrome were identified in genes encoding proteins regulating the complement pathway; on the other hand, there are approximately 58 genes encoding distinct proteins primarily causing steroid-resistant nephrotic syndrome. We present a child with steroid-resistant nephrotic syndrome and a confirmed homozygous c.966G > A, p.Trp322Ter pathogenic variant in DGKE. This variant was also found in compound with a novel DGKE heterozygous deletion c.171delG, p.Ser58Alafs*111 in a patient from our paediatric cohort with atypical haemolytic uraemic syndrome. Both cases presented with hypertension, nephrotic proteinuria and severe acute kidney injury followed by renal recovery; however, their renal histology was different. In this paper, we deal with the clinical course of children with disrupted DGKE, including the steroid-resistant nephrotic syndrome and atypical haemolytic uraemic syndrome overlap. 相似文献
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Lesliam Quirós-Alcalá Nadia N. Hansel Meredith McCormack Antonia M. Calafat Xiaoyun Ye Roger D. Peng Elizabeth C. Matsui 《The Journal of allergy and clinical immunology》2021,147(2):577-586.e7
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Alison J. Dicker Jeffrey T.J. Huang Mike Lonergan Holly R. Keir Christopher J. Fong Brandon Tan Andrew J. Cassidy Simon Finch Hana Mullerova Bruce E. Miller Ruth Tal-Singer James D. Chalmers 《The Journal of allergy and clinical immunology》2021,147(1):158-167
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Yan Zhang Danh C. Do Xinyue Hu Ji Wang Yilin Zhao Sumita Mishra Xin Zhang Mei Wan Peisong Gao 《The Journal of allergy and clinical immunology》2021,147(4):1464-1477.e11
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Stanislaw J. Gabryszewski Xiao Chang Jesse W. Dudley Frank Mentch Michael March John H. Holmes Jason Moore Robert W. Grundmeier Hakon Hakonarson David A. Hill 《The Journal of allergy and clinical immunology》2021,147(2):677-685.e10
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Qi Yan Erick Forno Esther Herrera-Luis Maria Pino-Yanes Ge Yang Sam Oh Edna Acosta-Pérez Donglei Hu Celeste Eng Scott Huntsman José R. Rodriguez-Santana Michelle M. Cloutier Glorisa Canino Esteban G. Burchard Wei Chen Juan C. Celedón 《The Journal of allergy and clinical immunology》2021,147(3):933-940
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Helen Marshall J. Chris Kenworthy Felix C. Horn Steven Thomas Andrew J. Swift Salman Siddiqui Christopher E. Brightling Jim M. Wild 《The Journal of allergy and clinical immunology》2021,147(6):2154-2161.e6
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Burden of preschool wheeze and progression to asthma in the UK: Population-based cohort 2007 to 2017
Chloe I. Bloom Courtney Franklin Andrew Bush Sejal Saglani Jennifer K. Quint 《The Journal of allergy and clinical immunology》2021,147(5):1949-1958
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Chia-Yun Hsieh Chau-Ren Jung Chuan-Yao Lin Bing-Fang Hwang 《The Journal of allergy and clinical immunology》2021,147(6):2171-2180.e13
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