Case Report: Primary Immunodeficiencies, Massive EBV+ T-Cell Lympoproliferation Leading to the Diagnosis of ICF2 Syndrome
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 co...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2021-04-01
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| Series: | Frontiers in Immunology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fimmu.2021.654167/full |
| _version_ | 1818934077517987840 |
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| author | Gonçalo Luzes Padeira Catarina Araújo Ana Isabel Cordeiro João Freixo Catarina Gregório Martins Catarina Gregório Martins João Farela Neves João Farela Neves João Farela Neves |
| author_facet | Gonçalo Luzes Padeira Catarina Araújo Ana Isabel Cordeiro João Freixo Catarina Gregório Martins Catarina Gregório Martins João Farela Neves João Farela Neves João Farela Neves |
| author_sort | Gonçalo Luzes Padeira |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-20T04:58:32Z |
| format | Article |
| id | doaj.art-d050916f23fa48a6bd3a29d3d34bc06c |
| institution | Directory Open Access Journal |
| issn | 1664-3224 |
| language | English |
| last_indexed | 2024-12-20T04:58:32Z |
| publishDate | 2021-04-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Immunology |
| spelling | doaj.art-d050916f23fa48a6bd3a29d3d34bc06c2022-12-21T19:52:39ZengFrontiers Media S.A.Frontiers in Immunology1664-32242021-04-011210.3389/fimmu.2021.654167654167Case Report: Primary Immunodeficiencies, Massive EBV+ T-Cell Lympoproliferation Leading to the Diagnosis of ICF2 SyndromeGonçalo Luzes Padeira0Catarina Araújo1Ana Isabel Cordeiro2João Freixo3Catarina Gregório Martins4Catarina Gregório Martins5João Farela Neves6João Farela Neves7João Farela Neves8Hospital de Dona Estefânia, Centro Hospitalar Universitário de Lisboa Central, Lisbon, PortugalDepartamento de Anatomia Patológica, Centro Hospitalar Universitário de Lisboa Central, Lisbon, PortugalHospital de Dona Estefânia, Centro Hospitalar Universitário de Lisboa Central, Lisbon, PortugalCentro de Genética Preditiva e Preventiva, Instituto de Biologia Molecular e Celular, Instituto de Investigação e Inovação em Saúde, Porto, PortugalCEDOC, Chronic Diseases Research Center, NOVA Medical School, Lisbon, PortugalComprehensive Health Research Centre (CHRC), NOVA Medical School, Nova University of Lisbon, Lisbon, PortugalHospital de Dona Estefânia, Centro Hospitalar Universitário de Lisboa Central, Lisbon, PortugalCEDOC, Chronic Diseases Research Center, NOVA Medical School, Lisbon, PortugalComprehensive Health Research Centre (CHRC), NOVA Medical School, Nova University of Lisbon, Lisbon, PortugalIn 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.https://www.frontiersin.org/articles/10.3389/fimmu.2021.654167/fullcase reportICF-2Primary immune deficienciesEBVlymphoproliferation |
| spellingShingle | Gonçalo Luzes Padeira Catarina Araújo Ana Isabel Cordeiro João Freixo Catarina Gregório Martins Catarina Gregório Martins João Farela Neves João Farela Neves João Farela Neves Case Report: Primary Immunodeficiencies, Massive EBV+ T-Cell Lympoproliferation Leading to the Diagnosis of ICF2 Syndrome Frontiers in Immunology case report ICF-2 Primary immune deficiencies EBV lymphoproliferation |
| title | Case Report: Primary Immunodeficiencies, Massive EBV+ T-Cell Lympoproliferation Leading to the Diagnosis of ICF2 Syndrome |
| title_full | Case Report: Primary Immunodeficiencies, Massive EBV+ T-Cell Lympoproliferation Leading to the Diagnosis of ICF2 Syndrome |
| title_fullStr | Case Report: Primary Immunodeficiencies, Massive EBV+ T-Cell Lympoproliferation Leading to the Diagnosis of ICF2 Syndrome |
| title_full_unstemmed | Case Report: Primary Immunodeficiencies, Massive EBV+ T-Cell Lympoproliferation Leading to the Diagnosis of ICF2 Syndrome |
| title_short | Case Report: Primary Immunodeficiencies, Massive EBV+ T-Cell Lympoproliferation Leading to the Diagnosis of ICF2 Syndrome |
| title_sort | case report primary immunodeficiencies massive ebv t cell lympoproliferation leading to the diagnosis of icf2 syndrome |
| topic | case report ICF-2 Primary immune deficiencies EBV lymphoproliferation |
| url | https://www.frontiersin.org/articles/10.3389/fimmu.2021.654167/full |
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