Table 3. Comparison of the demographic,... | Rockefeller University Press

Table 3.

Comparison of the demographic, clinical, and immunological parameters between the four CD70-deficient and 17 reported CD27-deficient patients

Parameters	CD27 deficiency^{^a}	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)

Parameters	CD27 deficiency^{^a}	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)

Data are extracted from van Montfrans et al., 2012; Salzer et al., 2013; and Alkhairy et al., 2015a.

Note that CD27 is a marker for memory B cells, and in CD27-deficient patients, CD27 is not expressed.