Publication
Case Report: Primary Immunodeficiencies, Massive EBV+ T-Cell Lympoproliferation Leading to the Diagnosis of ICF2 Syndrome
| dc.contributor.author | Padeira, GL | |
| dc.contributor.author | Araújo, C | |
| dc.contributor.author | Cordeiro, AI | |
| dc.contributor.author | Freixo, J | |
| dc.contributor.author | Martins, CG | |
| dc.contributor.author | Neves, JF | |
| dc.date.accessioned | 2021-05-19T15:08:46Z | |
| dc.date.available | 2021-05-19T15:08:46Z | |
| dc.date.issued | 2021 | |
| dc.description.abstract | 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. | pt_PT |
| dc.description.version | info:eu-repo/semantics/publishedVersion | pt_PT |
| dc.identifier.citation | Front Immunol . 2021 Apr 28;12:654167. | pt_PT |
| dc.identifier.doi | 10.3389/fimmu.2021.654167 | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.17/3693 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.publisher | Frontiers Media SA | pt_PT |
| dc.subject | EBV | pt_PT |
| dc.subject | ICF-2 | pt_PT |
| dc.subject | Primary immune deficiencies | pt_PT |
| dc.subject | Lymphoproliferation | pt_PT |
| dc.subject | Case report | pt_PT |
| dc.subject | HDE PED | pt_PT |
| dc.title | Case Report: Primary Immunodeficiencies, Massive EBV+ T-Cell Lympoproliferation Leading to the Diagnosis of ICF2 Syndrome | pt_PT |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.startPage | 654167 | pt_PT |
| oaire.citation.title | Frontiers in immunology | pt_PT |
| oaire.citation.volume | 12 | pt_PT |
| rcaap.rights | openAccess | pt_PT |
| rcaap.type | article | pt_PT |
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