A novel splice-site mutation in NFKB1 presenting as common variable immunodeficiency and postoperative hyperinflammation responsive to anti-IL-1 therapy.

Autor: Eddens T; Division of Allergy/Immunology, Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pa., Lue J; Division of Allergy/Immunology, Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pa., Sojati J; University of Pittsburgh Medical Scientist Training Program, Pittsburgh, Pa., Tomani M; Division of Rheumatology, Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pa., Dede O; Department of Orthopedic Surgery, University of Pittsburgh School of Medicine, Pittsburgh, Pa., Kernan K; Department of Critical Care Medicine, University of Pittsburgh School of Medicine, Pittsburgh, Pa; Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pa., Kietz D; Division of Rheumatology, Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pa., Larkin A; Division of Allergy/Immunology, Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pa., Chong H; Division of Allergy/Immunology, Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pa., Coffey K; Division of Allergy/Immunology, Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pa. Electronic address: coffeyke2@upmc.edu.
Jazyk: angličtina
Zdroj: The journal of allergy and clinical immunology. In practice [J Allergy Clin Immunol Pract] 2024 Oct; Vol. 12 (10), pp. 2873-2876.e1. Date of Electronic Publication: 2024 Jun 18.
DOI: 10.1016/j.jaip.2024.06.024
Databáze: MEDLINE