Patient characteristics (n = 17)
| Case no. . | Sex . | Country . | Dysmorphic face . | Cardiac anatomy . | Other anomalies . | Detection method of thymus absence . | CD3+/mm . | Hypopara-thyroidism . | CHARGE association . | Molecular defect (del22q11.2/CHD7) . | Infections before transplantation . | Reference . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | Male | Germany | Present | Normal | Renal, genital, PMR | CXR, US | 0 | Present | None | Present/ND | None | 16 |
| 2 | Male | Canada | None | ToF with intra-auricular defect | None | Surgery, CXR, CT | 0 | Present | None | Present/ND | None | |
| 3 | Male | Japan | Present | ToF, absence of pulmonary valve | Cleft palate, tracheobronchomalacia, atopic dermatitis-like skin eruptions | Surgery, CXR, CT, US | 4-107 | Present | None | Present/ND | Sepsis, 2 aseptic meningitis, and echovirus in urine | 8 |
| 4 | Male | France | Present | ToF | GER, facial nerve palsy | CXR | 9 | Present | None | Present/ND | Severe CMV infection, pneumonitis | |
| 5 | Male | United Kingdom | Present | AVSD | Cryptorchidism, micropenis, Dandy-Walker malformation | Surgery | 17 | None | None | None/none | Pneumonia (Pseudomonas spp), gastroenteritis (rotavirus) | |
| 6 | Female | United Kingdom | Present | VSD, ASD, PDA | Unilateral coloboma, hemivertebrae | Surgery, CXR | 0 | Present | Present | None/present | None | 6 (patient 1) |
| 7 | Male | United Kingdom | Present | PDA | Bilateral coloboma and choanal atresia, GER, tracheoesophageal fistula, micropenis | CXR | 0 | NA | Present | None/present | Pneumonitis, chronic lung disease | 6 (patient 2) |
| 8 | Female | United Kingdom | Present | ToF | Bilateral coloboma, Dandy-Walker malformation | Surgery | 0 | Present | Present | None/present* | None | |
| 9 | Male | United Kingdom | Present | ASD, PDA, left pulmonary vein stenosis | Dandy-Walker malformation, unilateral coloboma, absent left tibia, bilateral talipes, right preaxial polydactyly, bilateral cryptorchidism, micropenis, macular rash on the upper trunk, hepatomegaly | US | 142-200† (93% DR+, only CD4+) | Present | Present | None/present | None | 6 (patient 3) |
| 10 | Male | France | Present | Normal | Renal | CXR, US | 0-970† | Present | None | Present/ND | None | |
| 11 | Male | France | Present | Normal | Microencephaly, thyroiditis, velopharyngeal insufficiency, eczema with elevated IgE, GER, PMR, autoimmune thyroiditis, severe growth failure | CXR, US | 70 | Present | None | Present/ND | Sepsis and severe infections: sinusitis, pneumonias (C albicans, S aureus, P aeruginosa, S pneumoniae), CMV enteritis | 14, 15 |
| 12 | Male | Czech Republic | Present | PDA, right-sided aortal arch, FOA | Bilateral retinal coloboma and choanal atresia, esophageal atresia with tracheobronchial fistula, tracheobronchomalacia, GER, genital anomalies, breath-holding attacks, PMR | Surgery, MRI | 0 | Present | Present | None/ND | Sepsis (multiple organisms) | 10 |
| 13 | Male | United Kingdom | Present | PDA, FOA | Bilateral coloboma, cleft palate, tracheobronchomalacia, absence of cerebellar vermis and cerebellar hypoplasia | MRI | 0-130 | None | Present | None‡/ND | Severe infection (parainfluenza, Pseudomonas spp) | |
| 14 | Female | France | None | Normal | Maternal diabetes, PMR, erythrodermia | CXR, US | 0-1830† | Present | None | None‡/ND | None | |
| 15 | Male | USA | Present | Aberrant left subclavian artery | Unilateral choanal atresia, GER, VUR (grade 5), tracheobronchomalacia, gothic web, ankyloglossia, microgastria, vertical talus, scoliosis, 2-3 toe syndactyly, Coombs-positive hemolytic anemia | CXR, CT | 4-85 | Present | Present | None/present | E faecium urinary tract infection | 20 |
| 16 | Male | Canada | Present | Normal | Growth retardation, GER, PMR | CXR | 150-250 | Present | None | Present/ND | Severe bronchopneumonia (parainfluenza), recurrent thrush | 11 |
| 17 | Male | USA | Present | ToF | Renal | Surgery, CXR | 0-224 | Present | None | Present/ND | Severe sepsis (B cereus, Enterobacter spp, R equi) |
| Case no. . | Sex . | Country . | Dysmorphic face . | Cardiac anatomy . | Other anomalies . | Detection method of thymus absence . | CD3+/mm . | Hypopara-thyroidism . | CHARGE association . | Molecular defect (del22q11.2/CHD7) . | Infections before transplantation . | Reference . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | Male | Germany | Present | Normal | Renal, genital, PMR | CXR, US | 0 | Present | None | Present/ND | None | 16 |
| 2 | Male | Canada | None | ToF with intra-auricular defect | None | Surgery, CXR, CT | 0 | Present | None | Present/ND | None | |
| 3 | Male | Japan | Present | ToF, absence of pulmonary valve | Cleft palate, tracheobronchomalacia, atopic dermatitis-like skin eruptions | Surgery, CXR, CT, US | 4-107 | Present | None | Present/ND | Sepsis, 2 aseptic meningitis, and echovirus in urine | 8 |
| 4 | Male | France | Present | ToF | GER, facial nerve palsy | CXR | 9 | Present | None | Present/ND | Severe CMV infection, pneumonitis | |
| 5 | Male | United Kingdom | Present | AVSD | Cryptorchidism, micropenis, Dandy-Walker malformation | Surgery | 17 | None | None | None/none | Pneumonia (Pseudomonas spp), gastroenteritis (rotavirus) | |
| 6 | Female | United Kingdom | Present | VSD, ASD, PDA | Unilateral coloboma, hemivertebrae | Surgery, CXR | 0 | Present | Present | None/present | None | 6 (patient 1) |
| 7 | Male | United Kingdom | Present | PDA | Bilateral coloboma and choanal atresia, GER, tracheoesophageal fistula, micropenis | CXR | 0 | NA | Present | None/present | Pneumonitis, chronic lung disease | 6 (patient 2) |
| 8 | Female | United Kingdom | Present | ToF | Bilateral coloboma, Dandy-Walker malformation | Surgery | 0 | Present | Present | None/present* | None | |
| 9 | Male | United Kingdom | Present | ASD, PDA, left pulmonary vein stenosis | Dandy-Walker malformation, unilateral coloboma, absent left tibia, bilateral talipes, right preaxial polydactyly, bilateral cryptorchidism, micropenis, macular rash on the upper trunk, hepatomegaly | US | 142-200† (93% DR+, only CD4+) | Present | Present | None/present | None | 6 (patient 3) |
| 10 | Male | France | Present | Normal | Renal | CXR, US | 0-970† | Present | None | Present/ND | None | |
| 11 | Male | France | Present | Normal | Microencephaly, thyroiditis, velopharyngeal insufficiency, eczema with elevated IgE, GER, PMR, autoimmune thyroiditis, severe growth failure | CXR, US | 70 | Present | None | Present/ND | Sepsis and severe infections: sinusitis, pneumonias (C albicans, S aureus, P aeruginosa, S pneumoniae), CMV enteritis | 14, 15 |
| 12 | Male | Czech Republic | Present | PDA, right-sided aortal arch, FOA | Bilateral retinal coloboma and choanal atresia, esophageal atresia with tracheobronchial fistula, tracheobronchomalacia, GER, genital anomalies, breath-holding attacks, PMR | Surgery, MRI | 0 | Present | Present | None/ND | Sepsis (multiple organisms) | 10 |
| 13 | Male | United Kingdom | Present | PDA, FOA | Bilateral coloboma, cleft palate, tracheobronchomalacia, absence of cerebellar vermis and cerebellar hypoplasia | MRI | 0-130 | None | Present | None‡/ND | Severe infection (parainfluenza, Pseudomonas spp) | |
| 14 | Female | France | None | Normal | Maternal diabetes, PMR, erythrodermia | CXR, US | 0-1830† | Present | None | None‡/ND | None | |
| 15 | Male | USA | Present | Aberrant left subclavian artery | Unilateral choanal atresia, GER, VUR (grade 5), tracheobronchomalacia, gothic web, ankyloglossia, microgastria, vertical talus, scoliosis, 2-3 toe syndactyly, Coombs-positive hemolytic anemia | CXR, CT | 4-85 | Present | Present | None/present | E faecium urinary tract infection | 20 |
| 16 | Male | Canada | Present | Normal | Growth retardation, GER, PMR | CXR | 150-250 | Present | None | Present/ND | Severe bronchopneumonia (parainfluenza), recurrent thrush | 11 |
| 17 | Male | USA | Present | ToF | Renal | Surgery, CXR | 0-224 | Present | None | Present/ND | Severe sepsis (B cereus, Enterobacter spp, R equi) |
ToF indicates tetralogy of Fallot; AVSD, atrioventricular septal defect; VSD, ventricular septal defect; ASD, atrial septal defect; PDA, patent ductus arteriosus; FOA, foramen ovale apertum; PMR, psychomotor retardation; GER, gastroesophageal reflux; VUR, vesicoureteral reflux; CXR, chest x-ray; US, ultrasound; CT, computed tomography; MRI, magnetic resonance imaging; NA, not available; and ND, not done.
The mutation found is outside the typical region; the mother of the child bears the same mutation with no clinical correlate.
Autologous expansion of T cells.
Deletion at 10p excluded.