A Heterozygous Gain-of-Function Variant in IKBKB Associated with Autoimmunity and Autoinflammation

被引:0
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作者
Keith Sacco
Hye Sun Kuehn
Tomoki Kawai
Nouf Alsaati
Lauren Smith
Blachy Davila
Vanessa Bundy
Douglas B. Kuhns
Kerry Dobbs
Ottavia Delmonte
Luigi D. Notarangelo
Sergio D. Rosenzweig
Michael D. Keller
机构
[1] National Institute of Allergy and Infectious Diseases,Laboratory of Clinical Immunology and Microbiology, Immune Deficiency Genetics Section, Division of Intramural Research
[2] NIH,Division of Pulmonology, Section of Allergy
[3] Phoenix Children’s Hospital,Immunology
[4] National Institutes of Health (NIH) Clinical Center,Immunology Service, Department of Laboratory Medicine
[5] Children’s National Hospital,Division of Allergy and Immunology
[6] Children’s Hospital of the King’s Daughters,Eastern Virginia Medical School
[7] Children’s National Hospital,Division of Blood and Marrow Transplantation
[8] Leidos Biomedical Research,undefined
[9] Inc.,undefined
[10] Frederick National Laboratory for Cancer Research,undefined
来源
关键词
Autoinflammation; Autoimmunity; Primary immunodeficiency; T cell lymphopenia; Inborn error of Immunity; NF-κB signaling;
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页码:512 / 520
页数:8
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