Table 1.

Immunological parameters of the monoallelic PSMB10 G209R patient over time

1 wk13 mo25 mo38 mo51 mo66 mo
White blood cells, cells/µl 5,818 (7,540–14,910) 8,324 (6,510–13,940) 9,333 (5,420–11,870) 10,228 (5,420–11,870) 8,300 (5,420–11,870) 7,277 (5,420–11,870) 
Lymphocytes, cells/µl 1,923 (3,500–13,100) 3,578 (2,600–10,400) 3,939 (2,700–11,900) 2,139 (1,700–6,900) 3,184 (1,700–6,900) 2,453 (1,100–5,900) 
Neutrophils, cells/µl 1,086 (1,960–4,710) 2,965 (1,400–4,550) 3,555 (1,790–5,640) 6,995 (1,790–5,640) 3,121 (1,790–5,640) 3,738 (1,790–5,640) 
Eosinophils, cells/µl 254 (20–720) 1,034 (60–430) 526 (70–500) 226 (70–500) 817 (70–500) 263 (70–500) 
Monocytes, cells/µl 596 (570–1,900) 429 (490–1,170) 399 (440–950) 574 (440–950) 460 (440–950) 391 (440–950) 
Total T cells (CD3), cells/µl 208 (2,300–7,000) 919 (1,600–6,700) 1,367 (1,400–8,000) 903 (900–4,500) 1,676 (900–4,500) 1,261 (700–4,200) 
T helper cells (CD4), cells/µl 134 (1,700–5,300) 603 (1,000–4,600) 957 (900–5,500) 612 (500–2,400) 984 (500–2,400) 721 (300–2,000) 
Naïve CD4 T cells (CD45RA), cells/µl 38 253 428 262 401 275 
Naïve CD4 T cells (CD45RA), % 28.3 (81.0–91.5) 41.9 (75.8–88.1) 44.7 (61.8–85.0) 42.8 (61.8–85.0) 40.7 (61.8–85.0) 38.2 (61.8–85.0) 
Memory CD4 T cells (CD45RO), cells/µl 92 281 395 306 488 465 
Memory CD4 T cells (CD45RO), % 68.6 (5.1–11.4) 46.6 (10.0–15.6) 41.3 (14.8–37.2) 50.0 (14.8–37.2) 49.6 (14.8–37.2) 64.5 (14.8–37.2) 
Cytotoxic T cells (CD8), cells/µl 18 (400–1,700) 149 (400–2,100) 262 (400–2,300) 151 (300–1,600) 427 (300–1,600) 435 (300–1,800) 
Naïve CD8 T cells (CD45RA), cells/µl 14 75 124 79 237 214 
Memory CD8 T cells (CD45RO), cells/µl 4 68 110 82 223 216 
CD4/CD8 ratio 7:1 4:1 3,6:1 4:1 2,3:1 1,7:1 
TCRab T cells, cells/µl 138 719 1,235 797 1,394 1,140 
TCRgd T cells, cells/μl 5 115 121 73 192 148 
TRECS/106 T cells ​ ​ ​ ​ 1.988 ​ 
NK cells (CD3CD56+CD16+), cells/µl 254 (200–1,400) 865 (200–1,200) 632 (100–1,400) 285 (100–1,000) 267 (100–1,000) 492 (90–900) 
Total B cells (CD20), cells/µl 423 (600–1,900) 1,822 (773–1,990) 1,832 (529–1,930) 631 (529–1,930) 1,141 (323–1,000) 512 (323–1,000) 
Naïve B cells (IgD+CD27), cells/µl 399 1,691 (574–2,215) 1,602 (419–1,748) 504 (419–1,748) 829 (245–799) 343 (245–799) 
Intermediate B cells (IgD+CD27+), cells/µl 7 67 (43–118) 78 (39–208) 45 (39–208) 155 (29–113) 51 (29–113) 
Memory B cells (IgDCD27+), cells/μl 1 34 (13–54) 99 (20–115) 62 (20–115) 126 (18–94) 96 (18–94) 
IgM (mg/dl) 40 (3–32) 66 (14–82) 165 (36–144) 134 (36–144) 183 (36–144) 189 (36–144) 
IgG (mg/dl) 986 (390–1,050) 610 (470–1,230) 776 (540–1,340) 818 (540–1,340) 904 (590–1,430) 888 (590–1,430) 
IgA (mg/dl) <5 (<14) 28 (<14) 54 (<80) 81 (11–142) 92 (11–142) 106 (11–142) 
IgE (U/ml) 22 (<2) 26 (<60) 12 (<60) 14 (<60) 11 (<60) n.d. 
Vaccine serology inactivated n.d. T+D+HepB+ T+D+HepB+ T+D+HepB+ T+D+HepB+ T+D+HepB+ 
Live ​ ​ M+Mu+R+V+ M+Mu+R+V+ M+Mu+R+V+ M+Mu+R+V+ 
1 wk13 mo25 mo38 mo51 mo66 mo
White blood cells, cells/µl 5,818 (7,540–14,910) 8,324 (6,510–13,940) 9,333 (5,420–11,870) 10,228 (5,420–11,870) 8,300 (5,420–11,870) 7,277 (5,420–11,870) 
Lymphocytes, cells/µl 1,923 (3,500–13,100) 3,578 (2,600–10,400) 3,939 (2,700–11,900) 2,139 (1,700–6,900) 3,184 (1,700–6,900) 2,453 (1,100–5,900) 
Neutrophils, cells/µl 1,086 (1,960–4,710) 2,965 (1,400–4,550) 3,555 (1,790–5,640) 6,995 (1,790–5,640) 3,121 (1,790–5,640) 3,738 (1,790–5,640) 
Eosinophils, cells/µl 254 (20–720) 1,034 (60–430) 526 (70–500) 226 (70–500) 817 (70–500) 263 (70–500) 
Monocytes, cells/µl 596 (570–1,900) 429 (490–1,170) 399 (440–950) 574 (440–950) 460 (440–950) 391 (440–950) 
Total T cells (CD3), cells/µl 208 (2,300–7,000) 919 (1,600–6,700) 1,367 (1,400–8,000) 903 (900–4,500) 1,676 (900–4,500) 1,261 (700–4,200) 
T helper cells (CD4), cells/µl 134 (1,700–5,300) 603 (1,000–4,600) 957 (900–5,500) 612 (500–2,400) 984 (500–2,400) 721 (300–2,000) 
Naïve CD4 T cells (CD45RA), cells/µl 38 253 428 262 401 275 
Naïve CD4 T cells (CD45RA), % 28.3 (81.0–91.5) 41.9 (75.8–88.1) 44.7 (61.8–85.0) 42.8 (61.8–85.0) 40.7 (61.8–85.0) 38.2 (61.8–85.0) 
Memory CD4 T cells (CD45RO), cells/µl 92 281 395 306 488 465 
Memory CD4 T cells (CD45RO), % 68.6 (5.1–11.4) 46.6 (10.0–15.6) 41.3 (14.8–37.2) 50.0 (14.8–37.2) 49.6 (14.8–37.2) 64.5 (14.8–37.2) 
Cytotoxic T cells (CD8), cells/µl 18 (400–1,700) 149 (400–2,100) 262 (400–2,300) 151 (300–1,600) 427 (300–1,600) 435 (300–1,800) 
Naïve CD8 T cells (CD45RA), cells/µl 14 75 124 79 237 214 
Memory CD8 T cells (CD45RO), cells/µl 4 68 110 82 223 216 
CD4/CD8 ratio 7:1 4:1 3,6:1 4:1 2,3:1 1,7:1 
TCRab T cells, cells/µl 138 719 1,235 797 1,394 1,140 
TCRgd T cells, cells/μl 5 115 121 73 192 148 
TRECS/106 T cells ​ ​ ​ ​ 1.988 ​ 
NK cells (CD3CD56+CD16+), cells/µl 254 (200–1,400) 865 (200–1,200) 632 (100–1,400) 285 (100–1,000) 267 (100–1,000) 492 (90–900) 
Total B cells (CD20), cells/µl 423 (600–1,900) 1,822 (773–1,990) 1,832 (529–1,930) 631 (529–1,930) 1,141 (323–1,000) 512 (323–1,000) 
Naïve B cells (IgD+CD27), cells/µl 399 1,691 (574–2,215) 1,602 (419–1,748) 504 (419–1,748) 829 (245–799) 343 (245–799) 
Intermediate B cells (IgD+CD27+), cells/µl 7 67 (43–118) 78 (39–208) 45 (39–208) 155 (29–113) 51 (29–113) 
Memory B cells (IgDCD27+), cells/μl 1 34 (13–54) 99 (20–115) 62 (20–115) 126 (18–94) 96 (18–94) 
IgM (mg/dl) 40 (3–32) 66 (14–82) 165 (36–144) 134 (36–144) 183 (36–144) 189 (36–144) 
IgG (mg/dl) 986 (390–1,050) 610 (470–1,230) 776 (540–1,340) 818 (540–1,340) 904 (590–1,430) 888 (590–1,430) 
IgA (mg/dl) <5 (<14) 28 (<14) 54 (<80) 81 (11–142) 92 (11–142) 106 (11–142) 
IgE (U/ml) 22 (<2) 26 (<60) 12 (<60) 14 (<60) 11 (<60) n.d. 
Vaccine serology inactivated n.d. T+D+HepB+ T+D+HepB+ T+D+HepB+ T+D+HepB+ T+D+HepB+ 
Live ​ ​ M+Mu+R+V+ M+Mu+R+V+ M+Mu+R+V+ M+Mu+R+V+ 

Reference intervals according to (16) white blood cells, neutrophils, eosinophils, monocytes (17), and lymphocytes; total T, CD4 helper, cytotoxic CD8, and NK and B cells (18); naïve and memory CD4 percentages; and (19) B cell subpopulations and (20) TREC levels. Reduced cell counts are indicated in bold. Cell counts without reference ranges are indicated in italics. Ig reference intervals according to the local standard (University Hospital Duesseldorf). Abbreviations: T: tetanus; D: diphtheria; Hep B: hepatitis B; M: measles; Mu: mumps; R: rubella; V: varicella.

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