Table.1.
Immunological features in individuals carrying CARD9 c.143 + 1 G >C mutation
| Sample ID | I.1 | I.2 | II.2 | II.3 |
|---|---|---|---|---|
| Age/Gender | 48Y/M | 39Y/F | 9Y/M | 5/M |
| Zygosity | Heterozygous | Heterozygous | Heterozygous | Heterozygous |
|
| ||||
| T cells | ||||
| CD3 (cells/ul) | 2158 | 1821 | 1700 | 2714 |
| CD4 (cells/ul) | 1592 | 912 | 1162 | 1423 |
| CD8 (cells/ul) | 517 | 789 | 400 | 808 |
| CD3 (%) | 84.3 | 86.3 | 82.5 | 80.3 |
| CD4 (%) | 73.8 | 50 | 68.4 (H) | 52.4 |
| CD8 (%) | 24 | 43.3 (H) | 23.5 | 29.7 |
| CD4/CD8 ratio | 3.08 | 1.16 | 2.91 (H) | 1.76 |
| CD3 +/CD4−CD8−(DNT) (%) | 1.7 | 6 (H) | 7.7 (H) | 0.8 (L) |
| CD62L +CD45RA +/CD4 +(Naive) (%) | 33.2 | 41.9 | 72.1 | 70.5 |
| CD62L +CD45RA−/CD4 +(central memory) (%) | 55.2 | 46.3 | 24.5 | 25.9 |
| CD62L−CD45RA−/CD4 +(effector memory) (%) | 11.5 | 11.6 | 3.4 | 3.4 |
| CD62L−CD45RA +/CD4 +(TEMRA) (%) | 0.1 | 0.2 | 0.1 | 0.1 |
| CD62L +CD45RA +/CD8 +(Naive) (%) | 53.9 | 39.4 | 76.1 | 68.8 |
| CD62L +CD45RA−/CD8 +(central memory) (%) | 24.5 (H) | 21.7 (H) | 11.4 (H) | 20.3 (H) |
| CD62L−CD45RA−/CD8 +(effector memory) (%) | 18 | 24.2 | 8 | 8.2 |
| CD62L−CD45RA +/CD8 +(TEMRA) (%) | 3.7 (L) | 14.7 | 4.5 (L) | 2.7 (L) |
| B cells | ||||
| CD19 +(cells/ul) | 223 | 205 | 192 | 392 |
| CD19 +(%) | 8.7 | 9.7 | 9.3 | 11.6 |
| IgM +CD27 +/CD20 +(unswitched memory) (%) | 34.9 (H) | 10.7 | 4.1 | 9.5 |
| IgM-CD27 +/CD20 +(class-switched memory) (%) | 4.8 (L) | 3.5 (L) | 1.4 (L) | 4.1 |
| CD24-CD38 + +/CD19 +(Plasmablast) (%) | 0.4 (L) | 0.2 (L) | 0.4 (L) | 0.5 (L) |
| NK cells | ||||
| CD16 +CD56 +/CD3− (cells/ul) | 169 | 89 (L) | 177 | 281 |
| CD16 +CD56 +/CD3− (%) | 6.5 | 4.1 (L) | 8.3 | 8.1 |
| Serum immunoglobulin levels (mg/dL) | ||||
| IgG | 875 | 1030 | 460 (L) | 960 |
| IgM | 186 | 82 | 44 | 74 |
| IgA | 107 | 145 | 17 (L) | 89 |