Journal
FRONTIERS IN IMMUNOLOGY
Volume 11, Issue -, Pages -Publisher
FRONTIERS MEDIA SA
DOI: 10.3389/fimmu.2020.01593
Keywords
primary immunodeficiency; CVID; CD70-deficiency; EBV; gingivitis
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Funding
- German Research Foundation (DFG)
- Open Access Publication Fund of Charite -Universitatsmedizin Berlin
- Ligue Contre le Cancer-Equipe Labellisee (France)
- Agence Nationale de la Recherche (France) [ANR-10-IAHU-01, ANR-18-CE15-0025-01]
- Societe Francaise de Lutte contre les Cancers et Leucemies de l'Enfant et de l'Adolescent (France)
- ESID
- Agence Nationale de la Recherche (ANR) [ANR-18-CE15-0025] Funding Source: Agence Nationale de la Recherche (ANR)
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Most of the few patients with homozygous CD70 deficiency described to date suffered from EBV-related malignancies in early childhood. We present a woman with CD70 deficiency diagnosed in adulthood. She presented in childhood with recurrent airway infections due to encapsulated bacteria, herpes zoster and a fulminant EBV infection followed by chronic EBV infection with mild lymphoproliferation and severe gingivitis/periodontal disease with high EBV viral load in saliva and gingival plaques as an adult. Up to the age of 24 years she developed no malignancy despite constant EBV viremia since primary EBV infection 15 years previously. Immunologic evaluation in childhood showed hypogammaglobulinemia with impaired polysaccharide responsiveness. She has been stable on immunoglobulin substitution with no further severe viral infections and no bacterial airway infections in adulthood. Targeted panel sequencing at the age of 20 years revealed a homozygousCD70missense mutation (ENST00000245903.3:c.2T>C). CD70 deficiency was confirmed by absent CD70 expression of B cells and activated T cell blasts. The patient finished high school, persues an academic career and has rarely sick days at college. The clinical course of our patient may help to counsel parents of CD70-deficient patients with regard to prognosis and therapeutic options including haematopoetic stem cell transplantation.
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