换一批Inherited IL-12p40 deficiency: genetic, immunologic, and clinical features of 49 patients from 30 kindreds.
第一作者：
Carolina,Prando
第一单位：
From the St. Giles Laboratory of Human Genetics of Infectious Diseases (C. Prando, SBD, LA, JLC), Rockefeller Branch, The Rockefeller University, New York, New York; Laboratory of Human Genetics of Infectious Diseases (AS, J. Bustamante, SBD, C. Picard, JF, MdS, LJ, OFS, LA, JLC) Necker Branch, Institut National de la Santé et de la Recherche Médicale, U980, Necker Branch, Paris, France; University Paris Descartes (AS, J. Bustamante, SBD, C. Picard, JF, MdS, LJ, OFS, JLC) Paris Cité Sorbonne, Necker Medical School, Paris, France; Center for the Study of Primary Immunodeficiencies (J. Bustamante, C. Picard) and Pediatric Hematology-Immunology Unit (C. Picard, JLC), Assistance Publique-Hôpitaux de Paris, Necker Hospital, Paris, France; McGill Centre for the Study of Host Resistance (AC), Research Institute of McGill University Health Centre, and Departments of Human Genetics and Medicine, McGill University, Montreal, Quebec, Canada; Prince Naif Center for Immunology Research (ZAS, RH, S. Al-Muhsen, JLC) and Department of Pediatrics (ZAS, S. Al-Muhsen), College of Medicine, KingSaud University, Riyadh, Saudi Arabia; Department of Pediatrics (SAJ, SAH, HF, HAM, Mofareh Al-Zahrani, S. Al-Muhsen, IBH) King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; King Saud Medical City (EA), Riyadh, Saudi Arabia; Laboratory of Cytoimmunology (IBM, MBA, HEZ, RB), Pasteur Institut of Tunis, Tunis-Belvédère, Tunisia; Department of Clinical Immunology and Infectious Disease (PA, NM, DM) and Pediatric Respiratory Disease Research Center (MRB S.A Mahdaviani), National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Department of Pediatrics (JLS), University of Saint Etienne, Hôpital Nord, Saint Etienne, France; Department of Pediatrics (RN), Penang Medical College, Penang, Malaysia; Department of Clinical Biochemistry and Immunology (DSK), Addenbrookes Hospital, Cambridge, United Kingdom; Department of Pediatrics (JC), Sahloul Hospital, Sousse, Tunisia; Department of Pediatrics (J. Bouguila), Farhat Hached Hospital, Sousse, Tunisia; Department of Pediatrics (MB), Bone Marrow Transplantation Center, Tunis, Tunisia; Department of Pediatrics (TSAF, EAI, GEG, MAAS, Mofareh Al-Zahrani), King Fahad Medical City, Riyadh, Saudi Arabia; Department of Paediatrics (AJP), University of Oxford, NIHR Oxford Biomedical Research Centre, Children's Hospital, Oxford, United Kingdom; Department of Pediatrics (BM, BWL), National University of Singapore, Singapore; Department of Pediatrics (Mohammed Al-Zahrani), Security Forces Hospital, Riyadh, Saudi Arabia; and Pediatric Infectious Disease Research Center (NP), Tehran University of Medical Sciences, Tehran, Iran.
作者：
医学主题词
青少年(Adolescent);成年人(Adult);发病年龄(Age of Onset);亚洲, 西部(Asia, Western);儿童(Child);儿童, 学龄前(Child, Preschool);队列研究(Cohort Studies);DNA突变分析(DNA Mutational Analysis);女(雌)性(Female);建立者效应(Founder Effect);疾病遗传易感性(Genetic Predisposition to Disease);人类(Humans);婴儿(Infant);白细胞介素12亚单位p40(Interleukin-12 Subunit p40);男(雄)性(Male);外显率(Penetrance);沙门菌感染(Salmonella Infections);存活率分析(Survival Analysis);突尼斯(Tunisia);青年人(Young Adult)
DOI
10.1097/MD.0b013e31828a01f9
PMID
23429356
发布时间
2021-10-21
基金项目
UL1 TR000043/TR/NCATS NIH HHS/United States
HHMI/Howard Hughes Medical Institute/United States
5UL1RR024143-04/RR/NCRR NIH HHS/United States
R37 AI095983/AI/NIAID NIH HHS/United States
R01 AI089970/AI/NIAID NIH HHS/United States
UL1 RR024143/RR/NCRR NIH HHS/United States
1R01AI089970-01/AI/NIAID NIH HHS/United States
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Medicine
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