Table 2.
Immunological investigations of subjects with NFKB1 alterations.
| Haploinsufficiency mutation | Precorsor-skipping mutation | Missense mutation |
Normal range/ control value |
|||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Fam A | Fam B | Fam C | Fam D | Fam E | ||||||
| Subject ID | S1 | S2 | S3 | S4 | S5 | S6 | S7 | S8 | S9 | |
| Immunoglobulins: year | 2017 | 2013 | 2018 | 2018 | 2015 | 2009 | 2011 | 2016 | 2016 | |
| IgG (g/L) | 2.11 | 4.38 | 10.18 | 6.6 | 6.05 | 0.07 | 2.14 | <0.33 | 0.45 | 7–16 |
| IgG1 (g/L) | 1.39 | 3.30 | 8.35 | 5.00 | 4.85 | 0.04 | 1.66 | <0.22 | 0.35 | 4.9–11.4 |
| IgG2 (g/L) | 0.68 | 1.20 | 1.34 | 1.72 | 0.61 | 0.09 | 0.14 | <0.003 | 0.09 | 1.5–6.4 |
| IgG3 (g/L) | 0.07 | 0.07 | 0.28 | 0.35 | 0.17 | 0.01 | 0.35 | <0.11 | 0.02 | 0.2–1.1 |
| IgG4 (g/L) | 0.04 | 0.17 | 0.09 | 0.15 | 0.04 | 0.01 | 0.01 | 0.00 | 0.01 | 0.08–1.4 |
| IgA (g/L) | 0.26 | 0.25 | 2.02 | 1.45 | 0.27 | 0.25 | 0.25 | <0.10 | 0.26 | 0.7–4 |
| IgM (g/L) | 0.19 | 0.16 | 0.54 | 0.68 | 0.28 | 0.17 | 0.18 | <0.03 | 0.18 | 0.4–2.3 |
| Proliferation (% of daily control): year | 2018 | 2018 | 2018 | 2015 | 2018 | 2017 | 2016 | |||
| PHA | n.a. | 48 | 130 | 135 | 195 | 94 | n.a. | 121 | 115 | 100 |
| ConA | n.a. | 75 | 159 | 261 | 134 | 120 | n.a. | n.a. | 95 | 100 |
| PWM | n.a. | 28 | 244 | 174 | 77 | 48 | n.a. | 63 | 64 | 100 |
| PPD | n.a. | 61 | 212 | 11 | 275 | 88 | n.a. | n.a. | 103 | 100 |
| IL-2 | n.a. | 96 | 83 | 9 | 156 | 161 | n.a. | 1 | 33 | 100 |
| CD3 | n.a. | 70 | 124 | 140 | 66 | 74 | n.a. | 202 | 111 | 100 |
| Full blood count: year | 2017 | 2018 | 2018 | 2018 | 2015 | 2018 | 2011 | 2016 | 2016 | |
| WBC (cells/μl) | 8400 | 4100 | 8800 | 7000 | 6200 | 6600 | 7000 | 7704 | 9300 | 3600–11500 |
| Lymphocytes (% leukocytes) | 9 | 44 | 28 | 33 | 29 | 18 | 20 | 27 | 22 | 20–44 |
| Lymphocytes (cells/μl) | 756 | 1804 | 2464 | 2310 | 1798 | 1188 | 1400 | 2080 | 2046 | 1100–4000 |
| Phenotypic profile of peripheral blood lymphocytes: | ||||||||||
| CD3+ T cells (% lymphocytes) | 32.6 | 93.4 | 62.9 | 72.9 | 84.3 | 80.3 | 83 | 79 | 68.7 | 55–83 |
| CD4+ T cells (% lymphocytes) | 2.3 | 34.3 | 25.7 | 37.5 | 64.1 | 41.4 | 58 | 43 | 50.4 | 28–57 |
| CD8+ T cells (% lymphocytes) | 9 | 64.2 | 34 | 35.2 | 26 | 35.2 | 25 | 33 | 17.4 | 10–39 |
| CD19+ B cells (% lymphocytes) | 25.3 | 0.9 | 12.3 | 6.3 | 4.1 | 2.7 | 8 | 8 | 5.5 | 6–19 |
| CD3+CD56+ NK cells (% lymphocytes) | 37.3 | 3.6 | 11.5 | 15.7 | 7.6 | 4.4 | 8 | 13 | 5.9 | 7–31 |
| Phenotypic profile of peripheral blood CD4+ T cells: | ||||||||||
| Naive T cells (% CD4+ T cells) | 46 | 8 | 51.1 | 69 | 84 | 51 | n.a. | 28 | 64 | 49–72 |
| Memory T cells (% CD4+ T cells) | 53 | 91 | 48.9 | 31 | 15 | 48 | n.a. | 71 | 35 | 34–71 |
| Recent thymic emigrant T helper cells (% T cells) | 30.4 | 49.9 | 78.8 | 83.8 | 38.9 | 49.4 | n.a. | n.a. | 74.8 | 6.4–42 |
| Phenotypic profile of peripheral blood CD8+T cells: | ||||||||||
| Early effector memory T cells (% CD8+ T cells) | 64.5 | 15.4 | 10.4 | 3.2 | 9.6 | 16.8 | n.a. | n.a. | 3.8 | 2.9–16 |
| Late effector memory T cells (% CD8+ T cells) | 27.5 | 58.1 | 4 | 14.6 | 51.4 | 44.1 | n.a. | n.a. | 21.5 | 2.6–58 |
| Phenotypic profile of peripheral blood CD19+ B cells: | ||||||||||
| Naive B cells (% CD19 B cells) | 93.9 | n.m. | 59.4 | 77.3 | 66.6 | 32.8 | n.a. | 82.4 | 91.4 | 29–93 |
| IgM+ memory B cells (% CD19 B cells) | 4.6 | n.m. | 6.8 | 6 | 26.6 | 9.4 | n.a. | 1.4 | 4.3 | 2–25 |
| Class-switched B cells (% CD19 B cells) | 0.5 | n.m. | 2.3 | 1.3 | 4.6 | 9.8 | n.a. | 0.4 | 0.2 | 3–23 |
| Transitional B cells (% CD19 B cells) | 2.7 | n.m. | 1.9 | 3.9 | 4.2 | 4.7 | n.a. | 2.1 | 14.2 | 0.6–4.6 |
| Plasmablasts (% CD19 B cells) | 0.9 | n.m. | 0.7 | 2.1 | 3.7 | 0.4 | n.a. | 0.1 | 3.9 | 0.4–3.6 |
| CD21low B cells (% CD19 B cells) | 0.8 | n.m. | 2.8 | 2.2 | 4 | 4.3 | n.a. | 5.1 | 3.8 | 1–26 |
n.a., not available; n.m., not measurable (due to the extreme low absolute B cell count); WBC, White blood cell; PHA, phytohemagglutinin; ConA, concanavalin A; PWM, pokeweed mitogen; PPD, purified protein derivative; IL-2, interleukin 2. Bold and italic denote values deviating from reference range.