Table 3. Comparison of the demographic, clinical, and immunological parameters between the four CD70-deficient and 17 reported CD27-deficient patients.
| Parameters | CD27 deficiencya | CD70 deficiency |
|---|---|---|
| Demographic data | ||
| Number of patients (male/female) | 17 (6/11) | 4 (3/1) |
| Parental consanguinity (%) | 15 (88) | 4 (100) |
| Nonsense mutations (%) | 3 (18) | 2 (50) |
| Number of unique mutations reported | 6 | 2 |
| Median age at onset, yr (range) | 6 (1–22) | 2 (1–5) |
| Median age at genetic diagnosis, yr (range) | 11 (1–32) | 17 (3–30) |
| Postmortem diagnosis (%) | 5 (29) | 0 |
| Mortality (%) | 5 (29) | 0 |
| Clinical manifestation | ||
| EBV-positive serology (%) | 7/11 (64) | 4 (100) |
| EBV-related lymphoproliferative diseases (%) | 7 (41) | 3 (75) |
| EBV-related autoimmunity/inflammation (%) | 5 (29) | 1 (25) |
| Central nervous system infections (%) | 2 (12) | 1 (25) |
| Other Herpesviridae infection (%) | 3 (18) | 2 (50) |
| Neoplasia (%) | 9 (53) | 3 (75) |
| HL (%) | 3 (18) | 3 (75) |
| Immunological phenotype | ||
| Hypogammaglobulinemia (%) | 12 (71) | 3 (75) |
| Specific antibody deficiency (%) | 5/12 (42) | 2 (50) |
| Reduced total B cells (%) | 2 (12) | 0 |
| Increased transitional B cells (%) | 2/5 (40) | 2/3 (67) |
| Reduced memory B cells (%) | 7/8 (88)b | 2/3 (67) |
| CD8+ T cell dysfunction (%) | 1/1 (100) | 4 (100) |
| Abnormal NK cell counts (%) | 2/14 (14) | 0 |
| Abnormal NK cell function (%) | 4/6 (67) | 2 (50) |
a
Data are extracted from van Montfrans et al., 2012; Salzer et al., 2013; and Alkhairy et al., 2015a.
b
Note that CD27 is a marker for memory B cells, and in CD27-deficient patients, CD27 is not expressed.