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A Clinical Conundrum with Diagnostic and Therapeutic Challenge: a Tale of Two Disorders in One Case.

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第一作者： Pallavi,Gaikwad

第一单位： Indian Council of Medical Research (ICMR) - National Institute of Immunohaematology (NIIH), KEM Hospital, 13th floor New Multistorey Building, Parel Mumbai, Mumbai, India.

作者： Pallavi,Gaikwad ^[1] ; Umair Ahmed,Bargir ^[1] ; Shweta,Shinde ^[1] ; Pranoti,Kini ^[2] ; Rajesh,Chaurasia ^[3] ; Usha,Yadav ^[3] ; Amruta,Dhawale ^[1] ; Merin,George ^[1] ; Neha,Jodhawat ^[1] ; Priyanka,Setia ^[1] ; Disha,Vedpathak ^[1] ; Aparna,Dalvi ^[1] ; Ankita,Parab ^[1] ; Maya,Gupta ^[1] ; Reetika Malik,Yadav ^[1] ; Mayuri,Goriwale ^[1] ; Baburao,Vundinti ^[1] ; Nagesh,Bhat ^[3] ; B K,Sapra ^[3] ; Madhumati,Otiv ^[4] ; Ratna,Sharma ^[2] ; Manisha,Madkaikar ^[5]

作者单位： Indian Council of Medical Research (ICMR) - National Institute of Immunohaematology (NIIH), KEM Hospital, 13th floor New Multistorey Building, Parel Mumbai, Mumbai, India. ^[1] Department of Pediatric Hematology Oncology, Comprehensive Thalassemia Care, PHO and BMT Centre, Borivali, Mumbai, India. ^[2] Radiological Physics and Advisory Division, Bhabha Atomic Research Center, Trombay, Mumbai, India. ^[3] Department of Paediatric Intensive Care Unit, KEM Hospital, Pune, India. ^[4] Indian Council of Medical Research (ICMR) - National Institute of Immunohaematology (NIIH), KEM Hospital, 13th floor New Multistorey Building, Parel Mumbai, Mumbai, India. madkaikarmanisha@gmail.com. ^[5]

关键词 Artemis (DCLRE1C)DNA repair Fanconi anemia (FANCA)Inborn errors of immunity (IEIs)Radiation sensitivity

医学主题词人类(Humans);女(雌)性(Female);生物学鉴定法(Biological Assay);范科尼贫血(Fanconi Anemia);基因组学(Genomics);内环境稳定(Homeostasis);免疫, 先天(Immunity, Innate)

DOI 10.1007/s10875-023-01553-0

PMID 37526892

发布时间 2024-02-21

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准确一般字义偏差语意偏离译文作用小提交