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

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

doi:10.1016/j.ejmg.2025.105022

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

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

Research output: Contribution to journal › Article › peer-review

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.

Original language	English (US)
Article number	105022
Journal	European Journal of Medical Genetics
Volume	76
DOIs	https://doi.org/10.1016/j.ejmg.2025.105022
State	Published - Aug 2025

All Science Journal Classification (ASJC) codes

Genetics
Genetics(clinical)

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10.1016/j.ejmg.2025.105022

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@article{8992e464998c4d58b6203fe13356f37a,

title = "Wolcott-Rallison syndrome – crosstalk between PERK- EIF2A and type II interferon signaling",

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.",

author = "Megha Konduri and Devin Boe and Nada Yazigi and Khalid Khan and Ward, \{Brant R.\} and Saldana, \{Blachy Davila\} and Douglas Cavener and Bhaskar Kallakury and Alexander Kroemer and Cal Matsumoto and Thomas Fishbein and Ekong, \{Udeme D.\}",

note = "Publisher Copyright: {\textcopyright} 2025 The Authors",

year = "2025",

month = aug,

doi = "10.1016/j.ejmg.2025.105022",

language = "English (US)",

volume = "76",

journal = "European Journal of Medical Genetics",

issn = "1769-7212",

publisher = "Elsevier Masson s.r.l.",

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TY - JOUR

T1 - Wolcott-Rallison syndrome – crosstalk between PERK- EIF2A and type II interferon signaling

AU - Konduri, Megha

AU - Boe, Devin

AU - Yazigi, Nada

AU - Khan, Khalid

AU - Ward, Brant R.

AU - Saldana, Blachy Davila

AU - Cavener, Douglas

AU - Kallakury, Bhaskar

AU - Kroemer, Alexander

AU - Matsumoto, Cal

AU - Fishbein, Thomas

AU - Ekong, Udeme D.

PY - 2025/8

Y1 - 2025/8

N2 - 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.

AB - 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.

UR - https://www.scopus.com/pages/publications/105006947865

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U2 - 10.1016/j.ejmg.2025.105022

DO - 10.1016/j.ejmg.2025.105022

M3 - Article

C2 - 40441422

AN - SCOPUS:105006947865

SN - 1769-7212

VL - 76

JO - European Journal of Medical Genetics

JF - European Journal of Medical Genetics

M1 - 105022

ER -

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

Abstract

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