Wolcott-Rallison syndrome – crosstalk between PERK- EIF2A and type II interferon signaling
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.
Authors
- Nada Yazigi (ORCID: https://orcid.org/0000-0002-6436-4343)
- Alexander Kroemer (ORCID: https://orcid.org/0000-0002-9842-4973)
- Devin M. Boe (ORCID: https://orcid.org/0000-0003-3577-2556)
- Udeme D. Ekong (ORCID: https://orcid.org/0000-0002-3312-112X)
- Blachy J. Dávila Saldaña (ORCID: https://orcid.org/0000-0001-8281-3627)
- Thomas Fishbein (ORCID: https://orcid.org/0009-0009-8181-1828)
- Cal Matsumoto (ORCID: https://orcid.org/0000-0002-6364-1927)
- Brant R. Ward (ORCID: https://orcid.org/0000-0001-8056-6466)
- Douglas R. Cavener (ORCID: https://orcid.org/0000-0002-1558-7137)
- Karim Khan (ORCID: https://orcid.org/0000-0001-8689-9245)
- Bhaskar Kallakury
- Megha Konduri
Institutions
- Cincinnati Children's Hospital Medical Center (US)
- Pennsylvania State University (US)
- Children's National (US)
- Georgetown University (US)
- MedStar Georgetown University Hospital (US)
- Immune Deficiency Foundation (US)
Publication Details
- Journal
- European Journal of Medical Genetics
- Published
- 2025-05-27
- DOI
- https://doi.org/10.1016/j.ejmg.2025.105022
- Primary Topic
- Autoimmune and Inflammatory Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00