| Lymphocyte population . | Healthy controls . | Heterozygous relatives . | P1 . | P2 . | P3 . | P4 . |
|---|---|---|---|---|---|---|
| CD4+ T cells (% of lymphocytes) | 51.1 ± 5.2 | 38.4 ± 4.1 | 33.9↓ | 47.3 | 33.7↓ | 29.8↓ |
| Percentage of CD4+ T cells | ||||||
| Naive CD4+ T cells | 44.4 ± 3.4 | 52.7 ± 6.6 | 64.3↑ | 62.4↑ | 59.1↑ | 81.4↑ |
| Stem cell memory | 3.1 ± 0.3 | 1.6 ± 0.5 | 2.5 | 4↑ | 0.28↓ | 0.73↓ |
| Central memory | 28.3 ± 3.4 | 17.6 ± 5.4 | 15.3↓ | 9.8↓ | 20.1↓ | 10.8↓ |
| Effector memory | 20 ± 2.7 | 25 ± 6 | 14.8 | 22.4 | 10.7↓ | 5.4↓ |
| Tfh cells | 7 ± 1.1 | 9.8 ± 7.1 | 3.6↓ | 12.5↑ | 23.9↑ | NA |
| Regulatory T cells | 6.1 ± 1.1 | 5.9 ± 0.5 | 7.4 | 6.4 | 5.8 | NA |
| CD8+ T cells (% of lymphocytes) | 22.1 ± 3 | 14.2 ± 1.3 | 31.8↑ | 14.5↓ | 35.6↑ | 19.8 |
| Percentage of CD8+ T cells | ||||||
| Naive CD8+ T cells | 27.8 ± 3.4 | 44.2 ± 4.6 | 46.9↑ | 45↑ | 48.4↑ | 53.3↑ |
| Stem cell memory | 2.3 ± 0.5 | 5.8 ± 2.7 | 1.2↓ | 2.9 | 5↑ | 6.5↑ |
| Central memory | 9.4 ± 1.6 | 8.7 ± 2.9 | 2.1↓ | 3.2↓ | 4.5↓ | 17.1↑ |
| Effector memory | 36.3 ± 2.4 | 25.6 ± 3.1 | 9.8↓ | 17.7↓ | 30.8↓ | 16↓ |
| TEMRA | 23.5 ± 3.8 | 14.6 ± 3.8 | 39.9↑ | 29.8 | 11.3↓ | 7↓ |
| B cells (% of lymphocytes) | 9.7 ± 1.7 | 21.8 ± 5 | 10.7 | 2.6↓ | 24.2↑ | NA |
| Percentage of B cells | ||||||
| Transitional | 4.9 ± 0.5 | 3.6 ± 1 | 10.8↑ | 10.5↑ | 9.2↑ | NA |
| Naive | 68 ± 7 | 70.2 ± 17.5 | 82.1↑ | 68 | 85↑ | NA |
| Memory | 25.1 ± 6.2 | 24 ± 17 | 6.3↓ | 15.5 | 4.7↓ | NA |
| Switched memory (% of memory B cells) | 54.3 ± 5.1 | 44.8 ± 23.8 | 27.4↓ | 13↓ | 13.4↓ | NA |
| NK cells (% of lymphocytes) | 5.31 ± 0.6 | 15.8 ±19.7 | 4.2 | 5.2 | 2.9↓ | 5.1 |
| Percentage of NK cells | ||||||
| CD56bright | 93 ± 1 | 96.1 ± 2.4 | 84.5↓ | 91 | 86.3↓ | 97.4 |
| CD56dim | 6.6 ± 1 | 3.6 ± 2.2 | 14.1↑ | 4.06↓ | 13.7↑ | 2.2↓ |
| CD16+ | 76.9 ± 2.4 | 89.5 ± 5.5 | 66.9↓ | 88.5↑ | 84.6↑ | 87.5↑ |
| CD27+ | 20.5 ± 2 | 17.3 ± 4.8 | 20 | 23.8 | 18.8 | 18.7 |
| CD57+ | 60.2 ± 2.4 | 78.8 ± 14.7 | 55.4 | 70.7↑ | 54.9↓ | 75.9↑ |
| 2B4+ | 97.8 ± 0.4 | 97.5 ± 2.3 | 95.7↓ | 97.1 | 98.8 | 96↓ |
| CD94+ | 54.2 ± 2.5 | 80 ± 15.9 | 37.7↓ | 66.8↑ | 79.2↑ | 64.6↑ |
| KLRG1+ | 39.2 ± 5.8 | 60.6 ± 20.4 | 52.6↑ | 62.7↑ | 32 | 42.6 |
| NKp30+ | 58.7 ± 5.8 | 27.8 ± 20 | 28.3↓ | 32.7↓ | 36.8↓ | 63.9 |
| NKp44+ | 8.7 ± 3.7 | 4.4 ± 0.5 | 7.2 | 25.4↑ | 4.3 | 12 |
| NKp46+ | 31.5 ± 6.1 | 15 ± 11.3 | 26.6 | 26.7 | 37.5 | 45.4↑ |
| Lymphocyte population . | Healthy controls . | Heterozygous relatives . | P1 . | P2 . | P3 . | P4 . |
|---|---|---|---|---|---|---|
| CD4+ T cells (% of lymphocytes) | 51.1 ± 5.2 | 38.4 ± 4.1 | 33.9↓ | 47.3 | 33.7↓ | 29.8↓ |
| Percentage of CD4+ T cells | ||||||
| Naive CD4+ T cells | 44.4 ± 3.4 | 52.7 ± 6.6 | 64.3↑ | 62.4↑ | 59.1↑ | 81.4↑ |
| Stem cell memory | 3.1 ± 0.3 | 1.6 ± 0.5 | 2.5 | 4↑ | 0.28↓ | 0.73↓ |
| Central memory | 28.3 ± 3.4 | 17.6 ± 5.4 | 15.3↓ | 9.8↓ | 20.1↓ | 10.8↓ |
| Effector memory | 20 ± 2.7 | 25 ± 6 | 14.8 | 22.4 | 10.7↓ | 5.4↓ |
| Tfh cells | 7 ± 1.1 | 9.8 ± 7.1 | 3.6↓ | 12.5↑ | 23.9↑ | NA |
| Regulatory T cells | 6.1 ± 1.1 | 5.9 ± 0.5 | 7.4 | 6.4 | 5.8 | NA |
| CD8+ T cells (% of lymphocytes) | 22.1 ± 3 | 14.2 ± 1.3 | 31.8↑ | 14.5↓ | 35.6↑ | 19.8 |
| Percentage of CD8+ T cells | ||||||
| Naive CD8+ T cells | 27.8 ± 3.4 | 44.2 ± 4.6 | 46.9↑ | 45↑ | 48.4↑ | 53.3↑ |
| Stem cell memory | 2.3 ± 0.5 | 5.8 ± 2.7 | 1.2↓ | 2.9 | 5↑ | 6.5↑ |
| Central memory | 9.4 ± 1.6 | 8.7 ± 2.9 | 2.1↓ | 3.2↓ | 4.5↓ | 17.1↑ |
| Effector memory | 36.3 ± 2.4 | 25.6 ± 3.1 | 9.8↓ | 17.7↓ | 30.8↓ | 16↓ |
| TEMRA | 23.5 ± 3.8 | 14.6 ± 3.8 | 39.9↑ | 29.8 | 11.3↓ | 7↓ |
| B cells (% of lymphocytes) | 9.7 ± 1.7 | 21.8 ± 5 | 10.7 | 2.6↓ | 24.2↑ | NA |
| Percentage of B cells | ||||||
| Transitional | 4.9 ± 0.5 | 3.6 ± 1 | 10.8↑ | 10.5↑ | 9.2↑ | NA |
| Naive | 68 ± 7 | 70.2 ± 17.5 | 82.1↑ | 68 | 85↑ | NA |
| Memory | 25.1 ± 6.2 | 24 ± 17 | 6.3↓ | 15.5 | 4.7↓ | NA |
| Switched memory (% of memory B cells) | 54.3 ± 5.1 | 44.8 ± 23.8 | 27.4↓ | 13↓ | 13.4↓ | NA |
| NK cells (% of lymphocytes) | 5.31 ± 0.6 | 15.8 ±19.7 | 4.2 | 5.2 | 2.9↓ | 5.1 |
| Percentage of NK cells | ||||||
| CD56bright | 93 ± 1 | 96.1 ± 2.4 | 84.5↓ | 91 | 86.3↓ | 97.4 |
| CD56dim | 6.6 ± 1 | 3.6 ± 2.2 | 14.1↑ | 4.06↓ | 13.7↑ | 2.2↓ |
| CD16+ | 76.9 ± 2.4 | 89.5 ± 5.5 | 66.9↓ | 88.5↑ | 84.6↑ | 87.5↑ |
| CD27+ | 20.5 ± 2 | 17.3 ± 4.8 | 20 | 23.8 | 18.8 | 18.7 |
| CD57+ | 60.2 ± 2.4 | 78.8 ± 14.7 | 55.4 | 70.7↑ | 54.9↓ | 75.9↑ |
| 2B4+ | 97.8 ± 0.4 | 97.5 ± 2.3 | 95.7↓ | 97.1 | 98.8 | 96↓ |
| CD94+ | 54.2 ± 2.5 | 80 ± 15.9 | 37.7↓ | 66.8↑ | 79.2↑ | 64.6↑ |
| KLRG1+ | 39.2 ± 5.8 | 60.6 ± 20.4 | 52.6↑ | 62.7↑ | 32 | 42.6 |
| NKp30+ | 58.7 ± 5.8 | 27.8 ± 20 | 28.3↓ | 32.7↓ | 36.8↓ | 63.9 |
| NKp44+ | 8.7 ± 3.7 | 4.4 ± 0.5 | 7.2 | 25.4↑ | 4.3 | 12 |
| NKp46+ | 31.5 ± 6.1 | 15 ± 11.3 | 26.6 | 26.7 | 37.5 | 45.4↑ |
The proportions and phenotype of the indicated lymphocyte subsets were determined as detailed in the B, T, and NK cell phenotyping section of Materials and methods. Subsets of cells were defined as follows: naive (CD45RA+CCR7+CD95−), stem cell memory (CD45RA+CCR7+CD95+), central memory (CD45RA−CCR7+), effector memory (CD45RA−CCR7−), and TEMRA (CD45RA+CCR7−) CD4+ and CD8+ T cells; regulatory T cells (CD4+CD25hiCD127lo); T follicular cells (Tfh; CD4+CD45RA−CXCR5+); transitional (CD20+CD10+CD27−), naive (CD20+CD10−CD27−), and memory (CD20+CD10−CD27+) B cells; and class switched memory B cells (CD20+CD10−CD27+IgM−IgD−). Values from patients that are above or below two SDs of average value of controls are in bold.