Immunologic profile of 161 TACI-deficient patients at the time of PAD diagnosis
| Parameters . | Total (n = 161) . | Monoallelic (n = 143) . | Biallelic (n = 18) . | P value . | Missense (n = 153)a . | Non-missense (n = 22)b . | P value . | EC (n = 123)c . | IC (n = 16)d . | TM (n = 36)e . | P value . |
|---|---|---|---|---|---|---|---|---|---|---|---|
| WBC count Median (IQR), cells/μl | 6,690 (5,300–8,500) | 4,700 (3,915–5,900) | 6,780 (5,600–8,500) | 0.22 | 6,690 (5,400–8,400) | 6,850 (4,850–8,525) | 0.5 | 7,000 (5,450–8,900) | 6,090 (5,025–7,545) | 6,375 (5,590-7,052.5) | 0.37 |
| Lymphocyte absolute count Median (IQR), cells/μl | 1,960 (1,520–2,970) | 1,023 (970–1,319.7) | 1,977 (1,560–3,010) | 0.14 | 1,977 (1,572–2,970) | 1,525 (1,185.7–2,432.5) | 0.36 | 2,087 (1,545–3,055) | 1,800 (1,255–2,787.5) | 1,750 (1,527.5–2,007.5) | 0.63 |
| CD3 + T cells absolute count Median (IQR), cells/μl | 1,530 (1,069.5–1,951.5) | 954 (954–1,157) | 1,546 (1,096.5–1,957.2) | 0.31 | 1,550 (1,110–1,951.5) | 1,154 (995.2–1,620) | 0.28 | 1,750 (1,120–1,970) | 1,479.5 (9,67.7–1,995) | 1,342.5 (1,074.5–1,455.7) | 0.70 |
| CD19 + B cells absolute count Median (IQR), cells/μl | 302 (119–425) | 45 (45–372.5) | 308 (120–424) | 0.62 | 314 (133.5–416.5) | 205 (99.75–531.2) | 0.75 | 302 (118–427) | 120 (72–359.2) | 332 (155–387.5) | 0.99 |
| CD27-IgM+ naïve B cell Median (IQR), % of total B cellsf | 76.5 (59.5–87.7) | 75 (60.2–89) | 81.2 (58.5–90) | 0.32 | 74.2 (59.5–87.7) | 81.2 (61.7–92) | 0.21 | 76.2 (59–88.5) | 78.5 (60.5–90.3) | 75.2 (57.2–84) | 0.66 |
| CD27+IgM- switched memory B cell Median (IQR), % of total B cellsf | 1.2 (0.5–6.2) | 1.0 (0.2–4.4) | 4.0 (0.5–15.2) | 0.17 | 1.5 (0.5–6.2) | 0.7 (0.2–9.5) | 0.10 | 1.2 (0.7–5.7) | 0.7 (0.2–7.5) | 1.7 (0.5–7) | 0.73 |
| IgM Median (IQR), mg/dl | 25 (18.2–42) | 25.5 (24.2–80.7) | 24 (18–41.7) | 0.17 | 26 (20–42) | 19 (13–32) | 0.51 | 25 (17–40) | 26 (23–55) | 27.5 (20–42) | 0.60 |
| IgG Median (IQR), mg/dl | 309 (143.2–465.2) | 347.5 (175–433.5) | 294.5 (125.25–465.2) | 0.98 | 308 (141–460) | 302 (175–583) | 0.86 | 278 (120–467) | 405 (310–480) | 318 (187–393) | 0.43 |
| IgA Median (IQR), mg/dl | 16.5 (7–30) | 27.5 (18–69) | 15 (7–26) | 0.04* | 19 (7–32) | 12 (8–20) | 0.34 | 17 (6–24) | 20 (12–26) | 15.5 (9.5–51.5) | 0.45 |
| IgE Median (IQR), IU/ml | 2 (0–12) | 4 (4–8) | 2 (0–12.5) | 0.94 | 2 (0–12.5) | 4 (1.5–10) | 0.79 | 2.5 (0–12) | 2 (2–4) | 2 (0.5–14.5) | 0.76 |
| Parameters . | Total (n = 161) . | Monoallelic (n = 143) . | Biallelic (n = 18) . | P value . | Missense (n = 153)a . | Non-missense (n = 22)b . | P value . | EC (n = 123)c . | IC (n = 16)d . | TM (n = 36)e . | P value . |
|---|---|---|---|---|---|---|---|---|---|---|---|
| WBC count Median (IQR), cells/μl | 6,690 (5,300–8,500) | 4,700 (3,915–5,900) | 6,780 (5,600–8,500) | 0.22 | 6,690 (5,400–8,400) | 6,850 (4,850–8,525) | 0.5 | 7,000 (5,450–8,900) | 6,090 (5,025–7,545) | 6,375 (5,590-7,052.5) | 0.37 |
| Lymphocyte absolute count Median (IQR), cells/μl | 1,960 (1,520–2,970) | 1,023 (970–1,319.7) | 1,977 (1,560–3,010) | 0.14 | 1,977 (1,572–2,970) | 1,525 (1,185.7–2,432.5) | 0.36 | 2,087 (1,545–3,055) | 1,800 (1,255–2,787.5) | 1,750 (1,527.5–2,007.5) | 0.63 |
| CD3 + T cells absolute count Median (IQR), cells/μl | 1,530 (1,069.5–1,951.5) | 954 (954–1,157) | 1,546 (1,096.5–1,957.2) | 0.31 | 1,550 (1,110–1,951.5) | 1,154 (995.2–1,620) | 0.28 | 1,750 (1,120–1,970) | 1,479.5 (9,67.7–1,995) | 1,342.5 (1,074.5–1,455.7) | 0.70 |
| CD19 + B cells absolute count Median (IQR), cells/μl | 302 (119–425) | 45 (45–372.5) | 308 (120–424) | 0.62 | 314 (133.5–416.5) | 205 (99.75–531.2) | 0.75 | 302 (118–427) | 120 (72–359.2) | 332 (155–387.5) | 0.99 |
| CD27-IgM+ naïve B cell Median (IQR), % of total B cellsf | 76.5 (59.5–87.7) | 75 (60.2–89) | 81.2 (58.5–90) | 0.32 | 74.2 (59.5–87.7) | 81.2 (61.7–92) | 0.21 | 76.2 (59–88.5) | 78.5 (60.5–90.3) | 75.2 (57.2–84) | 0.66 |
| CD27+IgM- switched memory B cell Median (IQR), % of total B cellsf | 1.2 (0.5–6.2) | 1.0 (0.2–4.4) | 4.0 (0.5–15.2) | 0.17 | 1.5 (0.5–6.2) | 0.7 (0.2–9.5) | 0.10 | 1.2 (0.7–5.7) | 0.7 (0.2–7.5) | 1.7 (0.5–7) | 0.73 |
| IgM Median (IQR), mg/dl | 25 (18.2–42) | 25.5 (24.2–80.7) | 24 (18–41.7) | 0.17 | 26 (20–42) | 19 (13–32) | 0.51 | 25 (17–40) | 26 (23–55) | 27.5 (20–42) | 0.60 |
| IgG Median (IQR), mg/dl | 309 (143.2–465.2) | 347.5 (175–433.5) | 294.5 (125.25–465.2) | 0.98 | 308 (141–460) | 302 (175–583) | 0.86 | 278 (120–467) | 405 (310–480) | 318 (187–393) | 0.43 |
| IgA Median (IQR), mg/dl | 16.5 (7–30) | 27.5 (18–69) | 15 (7–26) | 0.04* | 19 (7–32) | 12 (8–20) | 0.34 | 17 (6–24) | 20 (12–26) | 15.5 (9.5–51.5) | 0.45 |
| IgE Median (IQR), IU/ml | 2 (0–12) | 4 (4–8) | 2 (0–12.5) | 0.94 | 2 (0–12.5) | 4 (1.5–10) | 0.79 | 2.5 (0–12) | 2 (2–4) | 2 (0.5–14.5) | 0.76 |
EC, extracellular domain; IC, intracellular domain; TM, transmembrane domain; IQR, interquartile range.
*Significant P value <0.05.
153 patients with missense variants, 19 in a compound heterozygous pattern and 4 in a homozygous pattern.
22 patients with non-missense variants, 8 in a compound heterozygous pattern and 1 in a homozygous pattern.
123 patients with TACI EC defects, 17 in a compound heterozygous pattern and 4 in a homozygous pattern.
16 patients with TACI IC defects, 5 in a compound heterozygous pattern.
36 patients with TACI TM defects, 5 in a compound heterozygous pattern and 4 in a homozygous pattern.
Data on B cell subset were only available for 134 cases.