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Papers of the Week

2021 Apr 21

J Allergy Clin Immunol Pract

Immune dysregulation in human ITCH deficiency successfully treated with hematopoietic cell transplantation.


Patel T, Henrickson SE, Moser EK, Field NS, Maurer K, Dawany N, Conrad M, Bunin N, Freedman JL, Heimall J, Arnold DE, Wang J, Markowitz JE, Payne-Poff S B, Williams KW, Russo PA, Wherry JE, Devoto M, Oliver P, Sullivan KE, et al.
J Allergy Clin Immunol Pract. 2021 Apr 21.
PMID: 33894394.


Mutations in ITCH, which encodes an E3 ubiquitin-protein ligase, can result in systemic autoimmunity and immunodeficiency. The clinical phenotype and mechanism of disease have not been fully characterized, resulting in a paucity of therapeutic options for this potentially fatal disease.