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A novel splice-site mutation in NFKB1 presenting as common variable immunodeficiency and postoperative hyperinflammation responsive to anti-IL-1 therapy.
Eddens, Taylor; Lue, Jennifer; Sojati, Jorna; Tomani, Michael; Dede, Ozgur; Kernan, Kate; Kietz, Daniel; Larkin, Allyson; Chong, Hey; Coffey, Kara.
Affiliation
  • 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.
J Allergy Clin Immunol Pract ; 12(10): 2873-2876.e1, 2024 Oct.
Article in En | MEDLINE | ID: mdl-38901617
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Common Variable Immunodeficiency / NF-kappa B p50 Subunit / Mutation Limits: Female / Humans / Male Language: En Journal: J Allergy Clin Immunol Pract Year: 2024 Document type: Article Country of publication: United States
Fulltext
Add to My VHL
Print
XML
PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Common Variable Immunodeficiency / NF-kappa B p50 Subunit / Mutation Limits: Female / Humans / Male Language: En Journal: J Allergy Clin Immunol Pract Year: 2024 Document type: Article Country of publication: United States