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Wolcott-Rallison syndrome – crosstalk between PERK- EIF2A and type II interferon signaling

Year: 2025
Type: article
Study design: Case Report
Abstract: Immune activation is not reported in children with Wolcott-Rallison syndrome (WRS). We observed a pattern of immune activation pre-transplant in three children with WRS that was consistent with increased interferon-γ (IFN-γ) and its regulated chemokine, CXCL9 in plasma, and bone marrow that demonstrated scattered hemophagocytosis. One child developed hemophagocytic lymphohistiocytosis after liver transplantation that was fatal. Children with WRS should undergo evaluation for inflammatory biomarkers before transplant to aid in diagnosis of and prompt treatment of hyperinflammatory syndromes. Early recognition can prevent fatal outcomes.
DOI: 10.1016/j.ejmg.2025.105022
Authors: Megha Konduri, Devin Boe, Nada Yazigi, Khalid Khan, Brant R. Ward, Blachy Davila Saldana, Douglas Cavener, Bhaskar Kallakury, Alexander Kroemer, Cal Matsumoto, Thomas Fishbein, Udeme D. Ekong
Institutions: Georgetown University, Children's National, Cincinnati Children's Hospital Medical Center, Pennsylvania State University, Georgetown University Medical Center, MedStar Georgetown University Hospital
Language: English
Subfield: Hematology
Field: Medicine
Open Access status: hybrid
Estimated APC paid: $3,330
OpenAlex ID: W4410769580
FWCI:
Cites: 31
Cited by:
Related to: 10