- 33 CD27 deficiency and 16 CD 70 deficiency patients from ESID and EBMT registries were retrospectively evaluated and long term follow-up was done
- Mean age of patients was 18.8 years and 16.7 years for CD27- and CD70-deficiencies. 37% patients had hypogammaglobulinemia, 14% patients expired with lymphoproliferation. 41% patients underwent allogenic HSCT with 95% survival
- Missense mutations were commonest in both CD27 and CD70 deficiencies and all mutations lead to reduced expression of CD27/CD70
- EBV related infectious mononucleosis, lymphoproliferation, lymphoma and HLH were common clinical features. CMV, HSV, HHV6, VZV and coxsakie viral infections were also seen.
- Flowcytometry showed increased CD8 T cells, increased γδ T-cells in CD70 deficiency, increased proportions of CD56 hi NK cells, reduced memory B cells, reduced naive CD4 T cells, and reduced naive CD8 T cell with increased Tem in CD27 def and increased naive CD8 T cells and reduced Tem in CD70 def
- Reduced expression of granzyme-A and perforin in CD27-deficient CD8+ TEMRA was seen signifying increased susceptibility to apoptosis also selective impairment of EBV-specific CD8+ T-cells was observed
Bottom line: CD27 and CD70 deficiency patients often present with EBV infection though have a heterogeneous clinical spectrum. Timely decision for HSCT needs to be taken especially in patients with malignant lymphomas. This disorder highlights the role of CD27-CD70 axis in EBV lymphomagenesis