Table 1.
Summary of clinical and immunological characteristics.
| Index patient III.4 | Patient's mother2 II.2 | Patient's aunt II.1 | Patient's cousin f. III.2 | Patient's cousin m. III.1 | Patient's grandfather I.1 | |
|---|---|---|---|---|---|---|
| Patient characteristics | ||||||
| Age of onset | 2 y | early childhood | 14 y | early childhood | early childhood | early childhood |
| Bacterial infections | Otitis media, sinusitis | n | n | rhinoconjunctivitis | n | NA |
| Viral infections | HSV rectally | HPV (genital) | Herpes labialis | n | n | NA |
| Bronchiectases | y | n | n | n | n | NA |
| Asthma bronchiale | y | n | y | y | y | y |
| Atopic dermatitis | y | y | y | y | y | y |
| Food and pollen allergies | y | n | y | y | y | y |
| Malignancies | n | Anal squamous cell carcinoma | n | n | n | Mycosis fungosis, suspected T-cell lymphoma with lung metastases |
| Treatment | IgG substitution | prednisolone, chemotherapy, radiation | prednisolone, antihistamines | ciclosporine A (stopped after 2 years), budesonide, topic prednisolone, antihistamines | salbutamol, prednisolone, topical tacrolimus, dupilumab | no records available |
| Alive | y | n (deceased at age 50) | y | y | y | n (deceased at age 56) |
| Descriptive and functional parameters | ||||||
| Blood count | ||||||
| Total leukocytes (cells/µL) | 6600 [4400-8100] | 5000 [4400-11300] | 5700 [4400-11300] | 12000 [4400-11300] | 9970 [4400-11300] | NA |
| Eosinophils (cells/µL) | 5900 [0-650] | 130 [0-490] | 38 [0-490] | 100 [0-490] | 227 [0-490] | NA |
| Neutrophils (cells/µL) | 494 [165-798] | 342 [180-755] | 275 [180-755] | 778 [180-755] | 521 [180-755] | NA |
| Lymphocytes (cells/µL) | 1980 [1400-3300] | 750 [1400-2800] | 2052 [1400-2800] | 2040 [1400-2800] | 1904 [1400-2900] | NA |
| Lymphocyte subsets | ||||||
| CD3+ (cells/µL) | 1663 [1000-2200] | 495 [1000-1980] | 1847 [1000-1980] | 1714 [1000-1980] | 1607 [1000-1980] | NA |
| CD4+ (cells/µL) | 1228 [530-1300] | 360 [630-1120] | 1703 [630-1120] | 1346 [630-1120] | 1325 [630-1120] | NA |
| CD8+ (cells/µL) | 396 [330-920] | 128 [240-700] | 115 [240-700] | 367 [240-700] | 263 [ 240-700] | NA |
| CD4/CD8 ratio | 3,1 [1-2,5] | 2,8 [1,3-3,5] | 14,82 [1,3-3,5] | 3,667 [1,3-3,5] | 5 [1,3-3,5] | NA |
| CD45 RA+ (% CD4+) | 60 [33-66] | 21 [23-69] | 73 [12-69] | 70 [23-69] | 77,2 [2-68] | NA |
| CD45 RO+ (% CD4+) | 31 [26-63] | 71 [30-74] | 21 [30-74] | 22 [30-74] | 22,5 [30-74] | NA |
| CD3+/DR+ in % | 11,7 [0,3-3,7] | 22 [0-7%] | 7,3 [0-7%] | 6,5 [0-7%] | 11,9 [0-7%] | NA |
| NK cells (CD3-CD16+CD56+ cells/µL) | 75 [90-700] | 51 [80-630] | 14 [80-630] | 98 [10-130] | 196 [80-630] | NA |
| B cells (CD19+ cells/µL) | 238 [110-570] | 188 [90-320] | 121 [90-320] | 147 [90-320] | 105 [90-320] | NA |
| transitional B cells (IgM++/CD38++ of %CD19+) | 4,9 [0,9-5,7] | 3,6 [0,9-5,7] | 1,8 [0,9-5,7] | 0,8 [0,9-5,7] | 4,9 [0,9-5,7] | NA |
| naive B cells (IgD+CD27+ of %CD19+) | 92 [52-87] | 80 [52-87] | 85 [52-87] | 90 [52-87] | 72 [33-100] | NA |
| class-switched (IgM-/CD20+/CD27+ of %CD19+) | 2,7 [3,8-23] | 4,7 [3,8-23] | 7,7 [3,8-23] | 5 [3,8-23] | 14,1 [3-46] | NA |
| Intracellular cytokine measurement | ||||||
| Th1 (% of IFNγ expression in CD3+) | 40,9 [30-51] | NA | 40,5 [30-51] | 24,4 [30-51] | NA | NA |
| Th2 (% of IL-4 expression in CD3+) | 0,75 [0,12-0,78] | NA | 1,91 [0,12-0,78] | 3,21 [1,12-0,78] | NA | NA |
| Th17 (% of IL-17 expression in CD3+) | 3,12 [1,41-4,73] | NA | 1,94 [1,41-4,73] | 4,72 [1,41-4,73] | NA | NA |
| T-cell proliferation | ||||||
| IL-2 | ↓ | ↓ | ↓ | normal | NA | NA |
| PHA | normal | normal | normal | normal | normal | NA |
| CD3/CD28 beads | normal | normal | normal | normal | normal | NA |
| MLC pool | ↓ | ↓ | ↓ | ↓ | NA | |
| Tetanus antigen | ↓ | ↓ | ↓ | ↓ | ↓ | NA |
| CMV antigen | ↓ | ↓ | ↓ | ↓ | ↓ | NA |
| Adenovirus antigen | normal | normal | ↓ | ↓ | ↓ | NA |
| Candidin antigen | ↓ | ↓ | ↓ | ↓ | ↓ | NA |
| Immunoglobulins | ||||||
| IgG (g/L) | 7,1¹ [7-16] | 6,9 [7-16] | 8,43 [7-16] | 8,64 [7-16] | 11,89 [7-16] | NA |
| IgM (g/L) | <0,16 [0,4-2,3] | <0,06 [0,4-2,3] | 0,7 [0,4-2,3] | 0,37 [0,4-2,3] | 0,72 [0,4-2,3] | NA |
| IgE (kU/L) | 1970 [<20] | <2 [<20] | 1973 [<20] | 4798 [<20] | 575 [<20] | NA |
| IgA (g/L) | 2,07 [0,7-4] | 1,48 [0,7-4] | 2,22 [0,7-4] | 4,36 [0,7-4] | 6,39 [0,7-4] | NA |
¹Under immunoglobulin substitution; ²Sample taken after radiotherapy; normal >30% of healthy control; MLC, mixed lymphocyte culture, NA, not available; y, yes; n, no; ↓ - reduced; bold values – abnormal results.