Clinical characteristics of 161 TACI-deficient patients at last follow-up
| 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 . |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Male/Female | 76/85 | 69/74 | 7/11 | 0.45 | 65/74 | 11/11 | 0.77 | 49/60 | 8/8 | 19/17 | 0.69 |
| Mortality, number (%) | 6 (3.7) | 4 (2.8) | 2 (11.1) | 0.07 | 5 (3.2) | 1 (4.5) | 0.55 | 4 (3.3) | 1 (6.3) | 1 (2.8) | 0.80 |
| Age at time of study, median (IQR), and years | 36.5 (7.5–63.0) | 35.5 (18–51) | 56 (39–60) | 0.03* | 38 (24.5–54) | 20 (53–14.5) | 0.20 | 35.5 (18.2–55) | 38 (17–53) | 38.5 30.5–48) | 0.49 |
| Age of onset, median (IQR), years | 4.0 (1.0–10.5) | 2.1 (1–7) | 24 (13–34) | 0.01* | 2.5 (1–8.7) | 1 (0.5–2.0) | 0.76 | 2 (1–8.2) | 1 (0.5–3) | 3 (1.5–1.5) | 0.06 |
| Diagnostic delay, median (IQR), and years | 7.0 (5.0–35.0) | 7 (4–32) | 14 (10–39) | <0.001* | 7.5 (5–34) | 5 (3.5–9) | 0.55 | 7.0 (4.5–34) | 5.0 3.5–30) | 9 (6.5–37) | 0.43 |
| Clinical CVID diagnosis, number (%) | 134 (83.2) | 119 (83.2) | 15 (83.3) | 0.55 | 117 (76.5) | 17 (77.3) | 0.93 | 94 (76.4) | 12 (75) | 28 (77.8) | 0.97 |
| Progressive form of PAD, number (%) | 21 (13.0) | 14 (9.8) | 4 (22.2) | 0.11 | 17 (11.1) | 4 (18.2) | 0.33 | 14 (11.4) | 2 (12.5) | 4 (11.1) | 0.98 |
| Parental consanguinity, number (%) | 27 (16.7) | 24 (16.8) | 3 (16.7) | 0.99 | 23 (15) | 4 (18.2) | 0.70 | 18 (14.6) | 1 (6.3) | 8 (22.2) | 0.49 |
| URI, number (%) | 161 (100) | 143 (100) | 18 (100) | 1.0 | 153 (100) | 22 (100) | 1.0 | 123 (100) | 16 (100) | 36 (100) | 1.0 |
| Otitis, number (%) | 121 (75.2) | 109 (76.2) | 12 (66.7) | 0.37 | 107 (69.9) | 14 (63.6) | 0.54 | 84 (68.3) | 10 (62.5) | 27 (75) | 0.62 |
| Sinusitis, number (%) | 81 (50.3) | 66 (46.2) | 15 (83.3) | 0.002* | 68 (44.4) | 13 (59.1) | 0.19 | 59 (48) | 7 (43.8) | 15 (41.7) | 0.78 |
| LRI, number (%) | 49 (30.4) | 43 (30.0) | 6 (33.3) | 0.77 | 45 (29.4) | 4 (18.1) | 0.27 | 34 (27.6) | 5 (31.3) | 10 (27.7) | 0.95 |
| Pneumonia, number (%) | 29 (18.0) | 25 (17.4) | 4 (22.2) | 0.62 | 28 (18.3) | 1 (4.5) | 0.10 | 22 (17.8) | 3 (18.8) | 4 (11.1) | 0.61 |
| Bronchiectasis, number (%) | 21 (13) | 15 (10.5) | 6 (33.3) | 0.006* | 18 (11.8) | 3 (13.6) | 0.80 | 15 (12.2) | 3 (18.8) | 3 (8.3) | 0.56 |
| Autoimmunity, number (%) | 62 (38.5) | 56 (39.1) | 6 (33.3) | 0.63 | 54 (35.2) | 8 (36.4) | 0.92 | 45 (36.5) | 5 (31.3) | 12 (33.3) | 0.87 |
| Lymphoproliferative, number (%) | 74 (45.9) | 61 (42.6) | 13 (72.2) | 0.03* | 63 (41.1) | 11 (50) | 0.43 | 50 (40.6) | 7 (43.8) | 17 (48.2) | 0.77 |
| Allergy/atopy, number (%) | 26 (16.1) | 21 (14.6) | 5 (27.8) | 0.15 | 21 (13.7) | 5 (22.7) | 0.26 | 20 (16.2) | 0 (0) | 6 (16.6) | 0.16 |
| Enteropathy, number (%) | 38 (26.6) | 33 (23.0) | 5 (27.8) | 0.65 | 31 (20.2) | 7 (31.8) | 0.21 | 32 (26.0) | 0 (0) | 6 (16.7) | 0.02* |
| Malignancy, number (%) | 16 (9.9) | 14 (9.7) | 2 (11.1) | 0.85 | 10 (6.3) | 6 (27.2) | 0.001* | 11 (8.9) | 0 (0) | 5 (13.8) | 0.31 |
| 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 . |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Male/Female | 76/85 | 69/74 | 7/11 | 0.45 | 65/74 | 11/11 | 0.77 | 49/60 | 8/8 | 19/17 | 0.69 |
| Mortality, number (%) | 6 (3.7) | 4 (2.8) | 2 (11.1) | 0.07 | 5 (3.2) | 1 (4.5) | 0.55 | 4 (3.3) | 1 (6.3) | 1 (2.8) | 0.80 |
| Age at time of study, median (IQR), and years | 36.5 (7.5–63.0) | 35.5 (18–51) | 56 (39–60) | 0.03* | 38 (24.5–54) | 20 (53–14.5) | 0.20 | 35.5 (18.2–55) | 38 (17–53) | 38.5 30.5–48) | 0.49 |
| Age of onset, median (IQR), years | 4.0 (1.0–10.5) | 2.1 (1–7) | 24 (13–34) | 0.01* | 2.5 (1–8.7) | 1 (0.5–2.0) | 0.76 | 2 (1–8.2) | 1 (0.5–3) | 3 (1.5–1.5) | 0.06 |
| Diagnostic delay, median (IQR), and years | 7.0 (5.0–35.0) | 7 (4–32) | 14 (10–39) | <0.001* | 7.5 (5–34) | 5 (3.5–9) | 0.55 | 7.0 (4.5–34) | 5.0 3.5–30) | 9 (6.5–37) | 0.43 |
| Clinical CVID diagnosis, number (%) | 134 (83.2) | 119 (83.2) | 15 (83.3) | 0.55 | 117 (76.5) | 17 (77.3) | 0.93 | 94 (76.4) | 12 (75) | 28 (77.8) | 0.97 |
| Progressive form of PAD, number (%) | 21 (13.0) | 14 (9.8) | 4 (22.2) | 0.11 | 17 (11.1) | 4 (18.2) | 0.33 | 14 (11.4) | 2 (12.5) | 4 (11.1) | 0.98 |
| Parental consanguinity, number (%) | 27 (16.7) | 24 (16.8) | 3 (16.7) | 0.99 | 23 (15) | 4 (18.2) | 0.70 | 18 (14.6) | 1 (6.3) | 8 (22.2) | 0.49 |
| URI, number (%) | 161 (100) | 143 (100) | 18 (100) | 1.0 | 153 (100) | 22 (100) | 1.0 | 123 (100) | 16 (100) | 36 (100) | 1.0 |
| Otitis, number (%) | 121 (75.2) | 109 (76.2) | 12 (66.7) | 0.37 | 107 (69.9) | 14 (63.6) | 0.54 | 84 (68.3) | 10 (62.5) | 27 (75) | 0.62 |
| Sinusitis, number (%) | 81 (50.3) | 66 (46.2) | 15 (83.3) | 0.002* | 68 (44.4) | 13 (59.1) | 0.19 | 59 (48) | 7 (43.8) | 15 (41.7) | 0.78 |
| LRI, number (%) | 49 (30.4) | 43 (30.0) | 6 (33.3) | 0.77 | 45 (29.4) | 4 (18.1) | 0.27 | 34 (27.6) | 5 (31.3) | 10 (27.7) | 0.95 |
| Pneumonia, number (%) | 29 (18.0) | 25 (17.4) | 4 (22.2) | 0.62 | 28 (18.3) | 1 (4.5) | 0.10 | 22 (17.8) | 3 (18.8) | 4 (11.1) | 0.61 |
| Bronchiectasis, number (%) | 21 (13) | 15 (10.5) | 6 (33.3) | 0.006* | 18 (11.8) | 3 (13.6) | 0.80 | 15 (12.2) | 3 (18.8) | 3 (8.3) | 0.56 |
| Autoimmunity, number (%) | 62 (38.5) | 56 (39.1) | 6 (33.3) | 0.63 | 54 (35.2) | 8 (36.4) | 0.92 | 45 (36.5) | 5 (31.3) | 12 (33.3) | 0.87 |
| Lymphoproliferative, number (%) | 74 (45.9) | 61 (42.6) | 13 (72.2) | 0.03* | 63 (41.1) | 11 (50) | 0.43 | 50 (40.6) | 7 (43.8) | 17 (48.2) | 0.77 |
| Allergy/atopy, number (%) | 26 (16.1) | 21 (14.6) | 5 (27.8) | 0.15 | 21 (13.7) | 5 (22.7) | 0.26 | 20 (16.2) | 0 (0) | 6 (16.6) | 0.16 |
| Enteropathy, number (%) | 38 (26.6) | 33 (23.0) | 5 (27.8) | 0.65 | 31 (20.2) | 7 (31.8) | 0.21 | 32 (26.0) | 0 (0) | 6 (16.7) | 0.02* |
| Malignancy, number (%) | 16 (9.9) | 14 (9.7) | 2 (11.1) | 0.85 | 10 (6.3) | 6 (27.2) | 0.001* | 11 (8.9) | 0 (0) | 5 (13.8) | 0.31 |
EC, extracellular domain; IC, intracellular domain; TM, transmembrane domain; URI, upper respiratory infections; LRI, lower respiratory infections; IQR, interquartile range.
EC (positions 1–165), TM (positions 166–186), and IC (positions 187–293).
*Significant P value <0.05.
153 patients with missense variants, including 130 with one variant, 19 with two variants in a compound heterozygous pattern and 4 with the same variant repeated 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.