Table 1.
Immunological characterization.
| Antibody Serology | ||||
|---|---|---|---|---|
| age of the patient | normal range (age-matched) | 11 years | 12 years | 13 years* |
| IgG (mg/dL) | 790-1700 | 470*L | 998 | 899 |
| IgG1 (mg/dL) | 500-880 | 122*L | 172*L | 374*L |
| IgG2 (mg/dL) | 150-600 | 321 | 956*H | 622*H |
| IgG3 (mg/dL) | 20-100 | 14*L | 18*L | 14*L |
| IgG4 (mg/dL) | 8-120 | <6*L | 24 | 6*L |
| IgM (mg/dL) | 90-350 | 218 | 189 | 218 |
| IgA (mg/dL) | 76-450 | 427 | 673*H | 427 |
| IgE (mg/dL) | ≤100 | 2.79 | 3.8 | 2.79 |
| serum antibody titer before and after booster vaccination | ||||
| T-dependent protein antigens | normal range++) (number of age-matched controls) | before vaccination | after vaccination+) | |
| tetanus toxoid IgG (IU/ml)) | 1.67-12.14 (33) | 0.16*L | 0.86*L | |
| diphtheria toxoid lgG (IU/ml) | 0.42-7.22 (22) | 0.01*L | 0.03*L | |
| T-independent polsaccharide antigen | ||||
| 23-valent pneumococcal polysaccharide IgG (reciprocal titer) antibody response |
428-10785 (41) | 77*L | 180*L | |
| 23-valent pneumococcal polysaccharide IgM (reciprocal titer) antibody response |
164-11943 (41) | 768 | 1335 | |
| 23-valent pneumococcal polysaccharide IgA (reciprocal titer) antibody response |
347-3452 (23) | 174*L | 489 | |
| 23-valent pneumococcal polysaccharide IgG2 (reciprocal titer) antibody response |
143-2326 (23) | 66*L | 90*L | |
| 23-valent pneumococcal polysaccharide (ratio IgG/lgM antibody response | 0.17-45.9 (41) | 0.1*L | 0.135*L | |
| EBV serology | ||||
| age of the patient | 11 years | 12 years | 13 years* | |
| EBV EA IgG antibody | neg | neg | neg | |
| EBV CA IgG antibody | neg | neg | pos | |
| EBV CA IgM antibody | neg | neg | neg | |
| EBV EBNA antibody | neg | neg | pos | |
| Immunological phenotype | ||||
| age of the patient | normal-range (age-matched) | 12 years | 13 years* | |
| leukocytes cells/μL | 4500-13500 | 4180*L | 10880 | |
| CD3+ cells/μL (% of lymphocytes) | 694-2976 (53-85%) | 1718 (70.88%) | 1479 (71.53%) | |
| CD4+ cells/μL (% of lymphocytes) | 386-2022 (31-66%) | 942 (38.85%) | 836 (40.42%) | |
| CD8+ cells/μL (% of lymphocytes) | 297-1011 (21-43%) | 995 (41.04 %) | 767 (37.10%) | |
| CD56+ cells/μL (% of lymphocytes) | 98-680 (6-29%) | 390 (16.07%) | 242 (11.72%) | |
| CD19+ cells/μL (% of lymphocytes) | 71-549 (7-23%) | 305 (12.57%) | 300 (14.50%) | |
| IgD- CD27+ (% of CD19+) | 7.81-27.45% | 4.29%*L | 2.49%*L | |
| IgD+ CD27+ (% of CD19+) | 6.81-30.53% | 10.23% | 7.31% | |
| IgD+ CD27- (% of CD19+) | 45.84-80.36% | 84.85%*H | 89.77%*H | |
| CD62L+ 45RA+ (% of CD4+) | 34.52-65.51% | 17.49%*L | 87.81%*H | |
| CD62L+ 45RA- (% of CD4+) | 19.32-37.24% | 0.02%*L | none detected | |
| CD62L- 45RA- (% of CD4+) | 9.21-25.87% | 0.02%*L | 0.04%*L | |
| CD62L- 45RA+ (% of CD4+) | 1.46-12.26% | 82.45%*H | 12.5%*H | |
| CD62L+ 45RA+ (% of CD8+) | 15.55-63.15% | 17.55% | 71.02%*H | |
| CD62L+ 45RA- (% of CD8+) | 1 .84-9.51 % | 0.53%*L | 0.09%*L | |
| CD62L- 45RA- (% of CD8+) | 2.77-25.25% | 0.05%*L | none detected | |
| CD62L- 45RA+ (% of CD8+) | 22-65.67% | 81.87%*H | 28.9% | |
| iNKT cells (% of CD3+) | 0.01-1% | none detected | none detected | |
Immunological laboratory parameters of the XLP1 patient compared to an age matched healthy control cohort. *L and *H indicate values below and above the age-matched normal range. +) antibody response in the patient examined eight weeks after booster vaccination; ++) antibody response in healthy controls examined 6-8 weeks after booster vaccination. *under IVIG substitution.