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Paper Details

Functional and structural analysis of cytokine-selective IL6ST defects that cause recessive hyper-IgE syndrome.
J Allergy Clin Immunol
16
2021
-, Ala517Pro, Asn404Tyr, CLC, CNTF, CT-1, GP130, GP130 cytokine receptor complexes, HIES, HIES IL6ST, IL-11, IL-27, IL-6, IL6ST, IL6ST variants, IgE, LIF, LIFR, OSM, Pro498Leu, RNA, Stve-Wiedemann syndrome, bacterial infections, eosinophilia, exon-skipping null variant, hyper-IgE syndrome, leukemia, leukemia inhibitory factor, oncostatin M, p, p.Ala517Pro, p.Asn404Tyr, p.Pro498Leu, patient, patients, recessive, recessive hyper-IgE syndrome, skeletal abnormalities
Author NameAffiliation
Shruti MarwahaCenter for Undiagnosed Diseases, Stanford University
Laure Fr??sardCenter for Undiagnosed Diseases, Stanford University, Stanford School of Medicine
David BickHudson Alpha Institute for Biotechnology
David BickHudson Alpha Institute for Biotechnology
Elizabeth A WortheyHudson Alpha Institute for Biotechnology
Elizabeth A WortheyHudson Alpha Institute for Biotechnology
Stephen B MontgomeryCenter for Undiagnosed Diseases, Stanford University, Stanford School of Medicine, Stanford University School of Medicine
Stephen B MontgomeryCenter for Undiagnosed Diseases, Stanford University, Stanford School of Medicine, Stanford University School of Medicine
Paul G FisherCenter for Undiagnosed Diseases, Stanford University, Stanford University School of Medicine
Euan A AshleyCenter for Undiagnosed Diseases, Stanford University, Stanford University School of Medicine
Matthew T WheelerCenter for Undiagnosed Diseases, Stanford University, Stanford School of Medicine
Matthew T WheelerCenter for Undiagnosed Diseases, Stanford University, Stanford School of Medicine
Jonathan A BernsteinCenter for Undiagnosed Diseases, Stanford University, Stanford University School of Medicine
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Release 1.2