Nature Communications (Nov 2021)
Desmoplakin and periplakin genetically and functionally contribute to eosinophilic esophagitis
- Tetsuo Shoda,
- Kenneth M. Kaufman,
- Ting Wen,
- Julie M. Caldwell,
- Garrett A. Osswald,
- Pathre Purnima,
- Nives Zimmermann,
- Margaret H. Collins,
- Kira Rehn,
- Heather Foote,
- Michael D. Eby,
- Wenying Zhang,
- Netali Ben-Baruch Morgenstern,
- Adina Y. Ballaban,
- Jeff E. Habel,
- Leah C. Kottyan,
- J. Pablo Abonia,
- Vincent A. Mukkada,
- Philip E. Putnam,
- Lisa J. Martin,
- Marc E. Rothenberg
Affiliations
- Tetsuo Shoda
- Division of Allergy and Immunology, Cincinnati Children’s Hospital Medical Center
- Kenneth M. Kaufman
- Center for Autoimmune Genomics and Etiology, Cincinnati Children’s Hospital Medical Center
- Ting Wen
- Division of Allergy and Immunology, Cincinnati Children’s Hospital Medical Center
- Julie M. Caldwell
- Division of Allergy and Immunology, Cincinnati Children’s Hospital Medical Center
- Garrett A. Osswald
- Division of Allergy and Immunology, Cincinnati Children’s Hospital Medical Center
- Pathre Purnima
- Division of Allergy and Immunology, Cincinnati Children’s Hospital Medical Center
- Nives Zimmermann
- Division of Allergy and Immunology, Cincinnati Children’s Hospital Medical Center
- Margaret H. Collins
- Department of Pediatrics, University of Cincinnati College of Medicine
- Kira Rehn
- Division of Allergy and Immunology, Cincinnati Children’s Hospital Medical Center
- Heather Foote
- Division of Allergy and Immunology, Cincinnati Children’s Hospital Medical Center
- Michael D. Eby
- Division of Allergy and Immunology, Cincinnati Children’s Hospital Medical Center
- Wenying Zhang
- Department of Pediatrics, University of Cincinnati College of Medicine
- Netali Ben-Baruch Morgenstern
- Division of Allergy and Immunology, Cincinnati Children’s Hospital Medical Center
- Adina Y. Ballaban
- Division of Allergy and Immunology, Cincinnati Children’s Hospital Medical Center
- Jeff E. Habel
- Division of Allergy and Immunology, Cincinnati Children’s Hospital Medical Center
- Leah C. Kottyan
- Division of Allergy and Immunology, Cincinnati Children’s Hospital Medical Center
- J. Pablo Abonia
- Division of Allergy and Immunology, Cincinnati Children’s Hospital Medical Center
- Vincent A. Mukkada
- Department of Pediatrics, University of Cincinnati College of Medicine
- Philip E. Putnam
- Department of Pediatrics, University of Cincinnati College of Medicine
- Lisa J. Martin
- Department of Pediatrics, University of Cincinnati College of Medicine
- Marc E. Rothenberg
- Division of Allergy and Immunology, Cincinnati Children’s Hospital Medical Center
- DOI
- https://doi.org/10.1038/s41467-021-26939-9
- Journal volume & issue
-
Vol. 12,
no. 1
pp. 1 – 15
Abstract
Eosinophilic esophagitis (EoE) is a chronic allergic inflammatory disease with a complex underlying genetic etiology. Here, the authors identify a series of rare variants in DSP and PPL in multiplex families with EoE and uncover a pathogenic role for desmosomal dysfunction in EoE.
