A Unique Heterozygous <i>CARD11</i> Mutation Combines Pathogenic Features of Both Gain- and Loss-of-Function Patients in a Four-Generation Family.

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作者： Marylin,Desjardins ^[1] ; Swadhinya,Arjunaraja ^[2] ; Jeffrey R,Stinson ^[3] ; Batsukh,Dorjbal ^[3] ; Janani,Sundaresan ^[3] ; Julie,Niemela ^[3] ; Mark,Raffeld ^[4] ; Helen F,Matthews ^[5] ; Angela,Wang ^[6] ; Pamela,Angelus ^[7] ; Helen C,Su ^[8] ; Bruce D,Mazer ^[7] ; Andrew L,Snow ^[8]

作者单位： Division of Allergy and Immunology, Department of Paediatrics, McGill University Health Centre, Montreal, QC, Canada. ^[1] Meakins-Christie Laboratories of the Research Institute of the McGill University Health Centre, Montreal, QC, Canada. ^[2] Department of Pharmacology and Molecular Therapeutics, Uniformed Services University of Health Sciences, Bethesda, MD, United States. ^[3] Department of Laboratory Medicine, NIH Clinical Center, Bethesda, MD, United States. ^[4] Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, United States. ^[5] Laboratory of Immune System Biology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States. ^[6] Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States. ^[7] Clinical Research Directorate/Clinical Monitoring Research Program, Leidos Biomedical Research, Inc., National Cancer Institute at Frederick, Frederick, MD, United States. ^[8]

关键词 Atopy B cell lymphocytosis BENTA CARD11 primary immumunodeficiencies