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A Heterozygous Gain-of-Function Variant in IKBKB Associated with Autoimmunity and Autoinflammation.
Sacco, Keith; Kuehn, Hye Sun; Kawai, Tomoki; Alsaati, Nouf; Smith, Lauren; Davila, Blachy; Bundy, Vanessa; Kuhns, Douglas B; Dobbs, Kerry; Delmonte, Ottavia; Notarangelo, Luigi D; Rosenzweig, Sergio D; Keller, Michael D.
Afiliação
  • Sacco K; Laboratory of Clinical Immunology and Microbiology, Immune Deficiency Genetics Section, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, NIH, 10 Center Dr, Rm 5-3840W, Bethesda, MD, 20914, USA. keith.sacco@nih.gov.
  • Kuehn HS; Division of Pulmonology, Section of Allergy-Immunology, Phoenix Children's Hospital, Phoenix, AZ, USA. keith.sacco@nih.gov.
  • Kawai T; Immunology Service, Department of Laboratory Medicine, National Institutes of Health (NIH) Clinical Center, Bethesda, MD, USA.
  • Alsaati N; Laboratory of Clinical Immunology and Microbiology, Immune Deficiency Genetics Section, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, NIH, 10 Center Dr, Rm 5-3840W, Bethesda, MD, 20914, USA.
  • Smith L; Division of Allergy and Immunology, Children's National Hospital, Washington, DC, USA.
  • Davila B; Eastern Virginia Medical School, Children's Hospital of the King's Daughters, Norfolk, VA, USA.
  • Bundy V; Division of Allergy and Immunology, Children's National Hospital, Washington, DC, USA.
  • Kuhns DB; Division of Blood and Marrow Transplantation, Children's National Hospital, Washington, DC, USA.
  • Dobbs K; Division of Allergy and Immunology, Children's National Hospital, Washington, DC, USA.
  • Delmonte O; Leidos Biomedical Research, Inc., Frederick National Laboratory for Cancer Research, Frederick, MD, USA.
  • Notarangelo LD; Laboratory of Clinical Immunology and Microbiology, Immune Deficiency Genetics Section, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, NIH, 10 Center Dr, Rm 5-3840W, Bethesda, MD, 20914, USA.
  • Rosenzweig SD; Laboratory of Clinical Immunology and Microbiology, Immune Deficiency Genetics Section, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, NIH, 10 Center Dr, Rm 5-3840W, Bethesda, MD, 20914, USA.
  • Keller MD; Laboratory of Clinical Immunology and Microbiology, Immune Deficiency Genetics Section, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, NIH, 10 Center Dr, Rm 5-3840W, Bethesda, MD, 20914, USA.
J Clin Immunol ; 43(2): 512-520, 2023 02.
Article em En | MEDLINE | ID: mdl-36378426

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Autoimunidade / Quinase I-kappa B Tipo de estudo: Risk_factors_studies Limite: Humans / Male Idioma: En Revista: J Clin Immunol Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Estados Unidos

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Autoimunidade / Quinase I-kappa B Tipo de estudo: Risk_factors_studies Limite: Humans / Male Idioma: En Revista: J Clin Immunol Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Estados Unidos