A case of partial dedicator of cytokinesis 8 deficiency with altered effector phenotype and impaired CD8+ and natural killer cell cytotoxicity

[...]his CD4+ and CD8+ T cells were more sensitive to Fas-induced apoptosis. Parameter Normal range Patient Lymphocyte count (no./[micro]L) and phenotype (%) 1200-3000 888[low *] T cells   CD3+ (/[micro]L) 850-2250 603[low *] CD4+ (/[micro]L) 500-1450 375[low *] CD4+CD45RA+CCR7+ (naive) (%) 25-72 15[low *] CD4+CD45RA-CCR7+/- (memory) (%) 28-68 82[low *] CD8+ (/[micro]L) 160-950 208 CD8+CD45RA+CCR7+ (naive) (%) 28-61 35 CD8+CD45RA-CCR7+ (central memory) (%) 1-10 19[low *] CD8+CD45RA-CCR7- (effector memory) (%) 5-36 23 CD8+CD45RA+CCR7- (TEMRA) (%) 15-45 18 Activated T cells   CD3+HLA-DR+ (%) 0-10 14[low *] CD4+CD45RO+HLA-DR+ (%) 3-10 19[low *] CD8+CD45RO+HLA-DR+ (%) 5-14 6 NK cells   CD3-CD56+ (/[micro]L) 60-500 54[low *] iNKT Cells CD3+CD56+Vβ11+V[alpha]24 (%) 0.01-1.80 0.0[low *] B cells   CD19+ (/[micro]L) 100-500 194 CD19+CD27+ (%) 12-35 8[low *] CD19+IgD+CD27- (naive) (%) 57-84 88[low *] CD19+IgD+CD27+ (marginal) (%) 4-12 3[low *] CD19+IgD-CD27+ (switched) (%) 7-25 5[low *] T-cell proliferation (cpm)   PHA >50,000 102,864 Anti-CD3 >9,000 30,212 Anti-CD3+Anti-CD28 >80,000 151,548 Serum immunoglobulins   IgG[dagger] (mg/dL) 700-1600 1130 IgA (mg/dL) 70-400 490[low *] IgM (mg/dL) 40-230 11[low *] IgE (IU/mL) 5-165 86 Specific antibodies   IgG vs Haemophilus (mg/dL) >4x prevalue Absent[low *] IgG vs Pneumococcus (mg/dL) >5.40 2.93[low *] IgG2 vs Pneumococcus (mg/dL) >2.14 2.0[low *] IgG vs tetanus toxoid (IU/mL) >0.15 2.1 Serum IL-7 (pg/mL) 0.66-9.24 26[low *] TRECs (/ug DNA) 3806