Immune deficiencies, infection, and systemic immune disordersCD27 deficiency is associated with combined immunodeficiency and persistent symptomatic EBV viremia
Section snippets
Methods
Evaluation of blood, bone marrow biopsy specimens, vaccination responses, and medical records were carried out after written informed consent was obtained in accordance with local medical ethics committee guidelines.
Patient identification and genetic diagnosis
Lymphocyte subset analysis was performed in a patient with a confirmed but unexplained diagnosis of CVID and persistent symptomatic EBV viremia. In this patient no CD27+ T or memory B cells were detected, despite the presence of normal percentages of naive (CD45RA+) T cells and switched IgG+ and IgA+ B cells (subpopulations normally expressing CD27). Immunohistochemistry (results not shown) and extended flow cytometric analysis with additional anti-CD27 mAbs and a recombinant ligand (CD70)
Discussion
We describe 2 cases of CD27 deficiency that presented with persistent symptomatic EBV viremia after primary infection with EBV at a young age. In the one case in which more detailed immunologic evaluation was possible, the immunologic phenotype shared similarities with that of CVID in that there was hypogammaglobulinemia and partially impaired specific antibody function. Overall, our findings demonstrate that CD27 deficiency might be associated with a distinct immunologic phenotype, one of
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2022, CellCitation Excerpt :The global prevalence of fulminant EBV disease is probably <10−5. The X-linked recessive (XR) form of this disease may be caused by mutations of SAP, XIAP, or MAGT1 (Coffey et al., 1998; Nichols et al., 1998; Sayos et al., 1998), whereas its AR forms are due to mutations of CTPS1, TNFRSF9, CD27, CD70, or ITK (Abolhassani et al., 2017; Alosaimi et al., 2019; Caorsi et al., 2017; Huck et al., 2009; Izawa et al., 2017; Martin et al., 2014; Rodriguez et al., 2019; Somekh et al., 2019; van Montfrans et al., 2012). Together, these mutations probably account for more than half the cases.
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2022, Journal of Allergy and Clinical Immunology: In PracticeCitation Excerpt :As is the case for SAP deficiency, early and reliable genetic diagnosis of MAGT1 deficiency is warranted to implement the best preventive, diagnostic, and therapeutic regimens and to counsel heterozygous female carriers. The CD27 and CD70 deficiency are caused by biallelic LOF variants in the CD27 molecule (CD27)52 and the CD70 molecule (CD70) gene.53 The CD27 is predominantly expressed on T cells and memory B cells, and CD70, which is the ligand for CD27, is expressed on activated B cells and further upregulated upon EBV infection.64
EBV and immunodeficiency
2021, Revue de Medecine InterneHuman inborn errors of immunity to oncogenic viruses
2021, Current Opinion in Immunology
Supported by National Institutes of Health grants NIH AI-067946 (J.S.O.) and NIH RO1 AI076066 (M.R.B.).
Disclosure of potential conflict of interest: J. S. Orange receives research support from the National Institutes of Health. The rest of the authors declare that they have no relevant conflicts of interest.