Clinical and immunological phenotype of CD3G-mutated patients
| Patient . | P1 . | P2 . | P3 . | P4 . | P5 . | P6 . |
|---|---|---|---|---|---|---|
| Age at testing | 27 mo | 19 y | 6 y | 15 y | 23 y | 34 y |
| CD3G mutation (allele 1) | c.1A>G | c.80-1G>C | c.80-1G>C | c.80-1G>C | c.80-1G>C | c.1A>G |
| CD3G mutation (allele 2) | c.1A>G | c.80-1G>C | c.80-1G>C | c.80-1G>C | c.80-1G>C | c.80-1G>C |
| CD3, cells/μL | 2018 (850-4300) | 630 (850-3200) | 2800 (2400-8300) | 380 (850-3200) | 1200 (570-2400) | 1051 (850-3200) |
| CD4, cells/μL | 627 (500-2700) | 520 (400-2100) | 1700 (1300-7100) | 210 (400-2100) | 800 (430-1800) | 842 (400-2100) |
| Of which are naïve, % | 39.4 | 19.3 | 41.3 | 5.4 | 13.0 | 3.1 |
| CM, % | 40.3 | 25.5 | 20.7 | 61.7 | 67.2 | 87 |
| EM, % | 19.8 | 53.5 | 34.4 | 31.5 | 19.7 | 9.5 |
| EMRA, % | 0.5 | 1.7 | 3.6 | 1.5 | 0.1 | 0.1 |
| CD8, cells/μL | 1139 (200-1800) | 40 (300-1300) | 822 (400-4100) | 116 (300-1300) | 270 (210-1200) | 200 (300-1300) |
| Of which are naïve, % | 7.4 | 7.7 | 26.0 | 5.3 | 11.3 | 5.0 |
| CM, % | 1.6 | 0.7 | 1.2 | 3.0 | 9.0 | 45.5 |
| EM, % | 41.4 | 57.5 | 44.9 | 55.4 | 53.5 | 44.7 |
| EMRA, % | 49.6 | 34.1 | 27.9 | 36.4 | 26.1 | 4.7 |
| CD19, cells/μL | 1988 (180-1300) | 250 (120-740) | 170 (110-7700) | 135 (120-740) | 800 (91-610) | 195 (120-740) |
| CD16/56, cells/μL | 945 (61-510) | 920 (92-1200) | 1500 (71-3500) | 370 (92-1200) | 500 (92-1200) | 137 (74-620) |
| IgG, mg/dL | 338 (407-1009) | 1240 (768-1632) | 881 (331-1164) | 491 (768-1632) | 1660 (768-1632) | 632 (768-1632) |
| IgA, mg/dL | 20 (14-122) | 180 (68-408) | 18 (14-105) | 6.6 (68-408) | 165 (68-408) | 364 (68-408) |
| IgM, mg/dL | 41 (46-160) | 110 (35-263) | 213 (41-164) | 50.4 (35-263) | 219 (35-263) | 59 (35-263) |
| IgE, kU/L | <1 (≤199) | 239 (≤696) | 6 (≤97) | 6 (≤696) | 6 (≤214) | ND |
| Infections | Klebsiella pneumoniae, MSSA, severe EBV | Acute bronchitis (×3) | none | RRTI, bronchiectasis | none | Soft tissue abscesses, viral meningitis |
| Autoimmunity | Autoimmune enteropathy, GLILD, AIHA | Hypothyroidism | Hypothyroidism | Hypothyroidism, AIHA, ITP, nephropathy, ALPS | Thyroiditis | Vitiligo, hypothyroidism |
| Skin rash | No | Atopic dermatitis | No | No | Atopic dermatitis | Atopic dermatitis |
| Patient . | P1 . | P2 . | P3 . | P4 . | P5 . | P6 . |
|---|---|---|---|---|---|---|
| Age at testing | 27 mo | 19 y | 6 y | 15 y | 23 y | 34 y |
| CD3G mutation (allele 1) | c.1A>G | c.80-1G>C | c.80-1G>C | c.80-1G>C | c.80-1G>C | c.1A>G |
| CD3G mutation (allele 2) | c.1A>G | c.80-1G>C | c.80-1G>C | c.80-1G>C | c.80-1G>C | c.80-1G>C |
| CD3, cells/μL | 2018 (850-4300) | 630 (850-3200) | 2800 (2400-8300) | 380 (850-3200) | 1200 (570-2400) | 1051 (850-3200) |
| CD4, cells/μL | 627 (500-2700) | 520 (400-2100) | 1700 (1300-7100) | 210 (400-2100) | 800 (430-1800) | 842 (400-2100) |
| Of which are naïve, % | 39.4 | 19.3 | 41.3 | 5.4 | 13.0 | 3.1 |
| CM, % | 40.3 | 25.5 | 20.7 | 61.7 | 67.2 | 87 |
| EM, % | 19.8 | 53.5 | 34.4 | 31.5 | 19.7 | 9.5 |
| EMRA, % | 0.5 | 1.7 | 3.6 | 1.5 | 0.1 | 0.1 |
| CD8, cells/μL | 1139 (200-1800) | 40 (300-1300) | 822 (400-4100) | 116 (300-1300) | 270 (210-1200) | 200 (300-1300) |
| Of which are naïve, % | 7.4 | 7.7 | 26.0 | 5.3 | 11.3 | 5.0 |
| CM, % | 1.6 | 0.7 | 1.2 | 3.0 | 9.0 | 45.5 |
| EM, % | 41.4 | 57.5 | 44.9 | 55.4 | 53.5 | 44.7 |
| EMRA, % | 49.6 | 34.1 | 27.9 | 36.4 | 26.1 | 4.7 |
| CD19, cells/μL | 1988 (180-1300) | 250 (120-740) | 170 (110-7700) | 135 (120-740) | 800 (91-610) | 195 (120-740) |
| CD16/56, cells/μL | 945 (61-510) | 920 (92-1200) | 1500 (71-3500) | 370 (92-1200) | 500 (92-1200) | 137 (74-620) |
| IgG, mg/dL | 338 (407-1009) | 1240 (768-1632) | 881 (331-1164) | 491 (768-1632) | 1660 (768-1632) | 632 (768-1632) |
| IgA, mg/dL | 20 (14-122) | 180 (68-408) | 18 (14-105) | 6.6 (68-408) | 165 (68-408) | 364 (68-408) |
| IgM, mg/dL | 41 (46-160) | 110 (35-263) | 213 (41-164) | 50.4 (35-263) | 219 (35-263) | 59 (35-263) |
| IgE, kU/L | <1 (≤199) | 239 (≤696) | 6 (≤97) | 6 (≤696) | 6 (≤214) | ND |
| Infections | Klebsiella pneumoniae, MSSA, severe EBV | Acute bronchitis (×3) | none | RRTI, bronchiectasis | none | Soft tissue abscesses, viral meningitis |
| Autoimmunity | Autoimmune enteropathy, GLILD, AIHA | Hypothyroidism | Hypothyroidism | Hypothyroidism, AIHA, ITP, nephropathy, ALPS | Thyroiditis | Vitiligo, hypothyroidism |
| Skin rash | No | Atopic dermatitis | No | No | Atopic dermatitis | Atopic dermatitis |
Reference values for age are shown in parentheses.
AIHA, autoimmune hemolytic anemia; ALPS, autoimmune lymphoproliferative syndrome; 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; ITP, idiopathic thrombocytopenic purpura; MSSA, methicillin-sensitive Staphylococcus aureus; ND, no data; RRTI, recurrent respiratory tract infections.