Case Report: Primary Immunodeficiencies, Massive EBV+ T-Cell Lympoproliferation Leading to the Diagnosis of ICF2 Syndrome

Frontiers in Immunology - Tập 12
Gonçalo Padeira1, Catarina Araújo2, Ana Isabel Cordeiro1, João Parente Freixo3, Catarina Martins4,5, João Farela Neves4,5,1
1Hospital de Dona Estefânia, Centro Hospitalar Universitário de Lisboa Central, Lisbon, Portugal
2Departamento de Anatomia Patológica, Centro Hospitalar Universitário de Lisboa Central, Lisbon, Portugal
3Centro de Genética Preditiva e Preventiva, Instituto de Biologia Molecular e Celular, Instituto de Investigação e Inovação em Saúde, Porto, Portugal
4CEDOC (Chronic Diseases Research Center), NOVA Medical School, Lisbon, Portugal
5Comprehensive Health Research Centre (CHRC), Nova Medical School, Nova University of Lisbon, Lisbon, Portugal

Tóm tắt

In immunocompromised patients, EBV may elicit B-cell transformation and proliferation. A 5-year-old microcephalic boy was admitted with fever and non-malignant polymorphic T-cell lymphoproliferative disease associated with EBV. A presumptive diagnosis of primary immunodeficiency with inability to control EBV was made and next-generation sequencing led to the identification of a novel ZBTB24 mutation (ICF2-syndrome). This case shows that susceptibility to EBV seems to be particular of ICF-2 as it has not been described in the other types of ICF. It is mandatory to raise the hypothesis of an underlying PID in case of severe EBV infection.

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Frontiers in Immunology

Tập 12

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