Skip to Main Content
Table 3.
Comparison of the demographic, clinical, and immunological parameters between the four CD70-deficient and 17 reported CD27-deficient patients
ParametersCD27 deficiencyaCD70 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 
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) 
Mortality (%) 5 (29) 
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) 
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) 
Abnormal NK cell function (%) 4/6 (67) 2 (50) 
ParametersCD27 deficiencyaCD70 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 
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) 
Mortality (%) 5 (29) 
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) 
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) 
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.

Close Modal

or Create an Account

Close Modal
Close Modal