Table 1.
Clinical and immunological phenotype of CD3G-mutated patient
| At diagnosis (12 months of age) | 15 months of age | 2 years of age (onset of AIHA) | 2.5 years of age (pre-BMT) | |
|---|---|---|---|---|
| Hemoglobin (g/dL) | 13.2 (10.5–15) | 10.3 (10.5–15) | 6.2 (10.9–15) | 11.5 (11.5–15) |
| PLT (cells × 103/μL) | 420 (150–450) | 365 (150–450) | 315 (150–450) | 365 (150–450) |
| WBC (cells × 103/μL) | 12.4 (7.4–14.3) | 10.3 (7.4–14.3) | 4.76 (7.4–14.3) | 6.39 (5–15.5) |
| ANC (cells × 103/μL) | 5.8 (1.5–8.5) | 4.6 (1.5–8.5) | 1.42 (1.5–8.5) | 5.21 (1.5–8.5) |
| ALC (cells × 103/μL) | 5.5 (4–10.5) | 4.7 (4–10.5) | 2.84 (3–9.5) | 0.64 (3–9.5) |
| CD3, cells/μL | 2018 (2100–6200) | 2380 (2100–6200) | 1028 (2100–6200) | 523 (1400–3700) |
| CD4, cells/μL of which are: | 627 (1300–3400) | 723 (1300–3400) | 517 (1300–3400) | 243 (700–2200) |
| naïve, % | 23.9 (46–84) | NA | 13.4 (46–84) | NA |
| CM, % | 59 (13–48) | 63.7 (13–48) | ||
| EM, % | 16.8 (0.9–6) | 21.5 (0.9–6) | ||
| EMRA, % | 0.3 (0–1.3) | 1.3 (0–1.3) | ||
| CD8, cells/μL of which are: | 1139 (620–2000) | 1291 (620–2000) | 437 (620–2000) | 245 (490–1300) |
| naïve, % | 4.1 (38–86) | NA | 5.1 (38–86) | NA |
| CM, % | 1 (6–34) | 8.3 (6–34) | ||
| EM, % | 26.8 (0.6–12) | 37.3 (0.6–12) | ||
| EMRA, % | 68.1 (0.5–24) | 49.3 (0.5–24) | ||
| Tregs (CD4+FOXP3+)% | NA | 5.2 (6–13 of CD4+) | 2.5 (6–13 of CD4+) | NA |
| CD19, cells/μL | 1988 (871–1553) | 3054 (871–1553) | 1452 (686–1732) | 52 (686–1732) |
| IgD− CD27+ | 0.3% (1.4–4.1) | NA | NA | NA |
| IgD+ CD27+ | 2.8% (4.2—6.9) | NA | NA | NA |
| CD16/56, cells/μL | 945 (160–950) | 956 (180–920) | 197 (180–920) | 116 (130–720) |
| IgG, mg/dL | 338 pre-IVIG / 691 post-IVIG (400–1300) | NA (IVIG) | NA (IVIG) | NA (IVIG) |
| IgA, mg/dL | < 7 (14–122) | NA | NA | NA |
| IgM, mg/dL | 41(46–160) | NA | NA | NA |
| IgE, kU/L | < 1 (< 200) | NA | NA | NA |
| TRECs (copies of TRECs/μL of DNA) | 125 (> 25) | NA | NA | NA |
| Proliferation to mitogens (PHA, Con-A, anti-CD3) | Decreased | Decreased | NA | NA |
| Infections | RRTI, 2 clinically diagnosed pneumonias within first year of life | RRTI, Clostridium difficile | RRTI, Klebsiella pneumoniae, severe EBV | RRTI, Klebsiella pneumoniae, severe EBV |
| Autoimmunity | Autoimmune enteropathy | Autoimmune enteropathy | Autoimmune enteropathy, GLILD, AIHA | Autoimmune enteropathy, GLILD, AIHA |
Reference values for age are shown in parentheses.
AIHA, autoimmune hemolytic anemia; ALC, absolute lymphocyte count; ANC, absolute neutrophil count; CM, central memory (CD45RA− CCR7+); EBV, Epstein-Barr virus; EM, effector memory (CD45RA− CCR7−); EMRA, effector memory CD45RA+ (CD45RA+ CCR7−); GLILD, granulomatous lymphocytic interstitial lung disease; IVIG, intravenous immunoglobulin treatment; NA, not available; RRTI, recurrent respiratory tract infections