Clinical and immunologic findings prior to transplantation and procedures required for clinical care
ID no., age at tx* . | 22q11†, CHARGE status . | Clinical findings at presentation . | Initial T-cell count‡, age . | PHA response‡, (bkg), age . |
|---|---|---|---|---|
| DIG001§, day 90 | 22q11 normal | PDA, hypocalcemia (with seizure), GER, single left kidney | 1/mm3∥, day 36 | 1 457 cpm (1 045 cpm) day 71 |
| DIG002, day 96 | 22q11 normal CHARGE | PDA, tracheomalacia, GER, ear anomaly, hypocalcemia, coloboma, microphallus, cleft lip and palate | 10/mm3, day 23 | 568 cpm (654 cpm) day 23 |
| DIG003, day 51 | 22q11 hemi | Aortic narrowing, abnormal vessels, dilated coronary sinus, omphalocele, malrotation, malformed ear | 0/mm3, day 33 | 8 674 cpm (9 965 cpm) day 33 |
| DIG004, day 127 | 22q11 hemi | ASD, PDA, right aortic arch, cleft soft palate, abnormalities of digits, hypocalcemia, severe GER, tracheomalacia, CMV infection, chronic ventilation, use of oscillator | 0/mm3, day 126 | 1 093 cpm (1 214 cpm) day 62 |
| DIG005, day 63 | 22q11 normal CHARGE | Microphallus with undescended testes, laryngomalacia, ovoid left kidney, transient hypocalcemia, right vocal cord adduction paresis after surgery, PDA, left SVC, dilated coronary sinus, bilateral coloboma, hearing deficit, nasopharyngeal reflux with aspiration, development delay | 337 CD4 T cells/mm3; and 0 CD8 cells (3 naive CD4 T cells/mm3), day 59¶ | 15 079 cpm (964 cpm) day 31; and 1864 cpm (573 cpm) day 44# |
| DIG006, day 33 | 22q11 hemi | TOF, right aortic arch, hypocalcemia, malrotation | 16/mm3, day 27 (note: subsequent 10 tests had 0/mm3 T cells) | 360 cpm (362 cpm) day 5 |
| DIG007, day 133 | 22q11 hemi | IAA type B, PDA, VSD, hypocalcemia, laryngomalacia, GER, episodes of sepsis, right renal agenesis, grade I hydronephrosis on left, hernias, poor swallow | 0/mm3, day 115 | 305 cpm (128 cpm) day 119 |
| DIG009, day 75 | 22q11 hemi | Hypocalcemia, aberrant right subclavian artery | 0/mm3, days 17 and 42 | Not done |
| DIG010, day 53 | 22q11 normal CHARGE | GER, PDA, choanal atresia, hearing loss, bilat colobomas, hydoureteral reflux grade 4, hydronephrosis, microphallus, undescended testes | 22/mm3, day 43 | 426 cpm (219 cpm) day 43 |
| DIG011, day 67 | 22q11 normal CHARGE | Bilat coloboma, AV canal, complete right sided cleft lip and palate, developmental delay, decreased hearing, hypocalcemia, inguinal hernias, GER, partial agenesis of corpus callosum, single left kidney, grade I hydronephrosis | 0/mm3, day 41 | 204 cpm (340 cpm) day 41 |
| DIG012, day 82 | 22q11 normal | Truncus, hypocalcemia, hemivertebra T10-11 on left, GER | 0/mm3, day 27 | 1 701 cpm (476 cpm) day 32 |
| DIG016, day 107 | 22q11 hemi CHARGE | PDA, TOF, hypoplastic right and left PA, VSD, hypocalcemia, single right kidney, hydroureteronephrosis, decreased hearing, GER | 0/mm3, days 41 and 86 | 1 318 cpm (677 cpm) day 41 |
ID no., age at tx* . | 22q11†, CHARGE status . | Clinical findings at presentation . | Initial T-cell count‡, age . | PHA response‡, (bkg), age . |
|---|---|---|---|---|
| DIG001§, day 90 | 22q11 normal | PDA, hypocalcemia (with seizure), GER, single left kidney | 1/mm3∥, day 36 | 1 457 cpm (1 045 cpm) day 71 |
| DIG002, day 96 | 22q11 normal CHARGE | PDA, tracheomalacia, GER, ear anomaly, hypocalcemia, coloboma, microphallus, cleft lip and palate | 10/mm3, day 23 | 568 cpm (654 cpm) day 23 |
| DIG003, day 51 | 22q11 hemi | Aortic narrowing, abnormal vessels, dilated coronary sinus, omphalocele, malrotation, malformed ear | 0/mm3, day 33 | 8 674 cpm (9 965 cpm) day 33 |
| DIG004, day 127 | 22q11 hemi | ASD, PDA, right aortic arch, cleft soft palate, abnormalities of digits, hypocalcemia, severe GER, tracheomalacia, CMV infection, chronic ventilation, use of oscillator | 0/mm3, day 126 | 1 093 cpm (1 214 cpm) day 62 |
| DIG005, day 63 | 22q11 normal CHARGE | Microphallus with undescended testes, laryngomalacia, ovoid left kidney, transient hypocalcemia, right vocal cord adduction paresis after surgery, PDA, left SVC, dilated coronary sinus, bilateral coloboma, hearing deficit, nasopharyngeal reflux with aspiration, development delay | 337 CD4 T cells/mm3; and 0 CD8 cells (3 naive CD4 T cells/mm3), day 59¶ | 15 079 cpm (964 cpm) day 31; and 1864 cpm (573 cpm) day 44# |
| DIG006, day 33 | 22q11 hemi | TOF, right aortic arch, hypocalcemia, malrotation | 16/mm3, day 27 (note: subsequent 10 tests had 0/mm3 T cells) | 360 cpm (362 cpm) day 5 |
| DIG007, day 133 | 22q11 hemi | IAA type B, PDA, VSD, hypocalcemia, laryngomalacia, GER, episodes of sepsis, right renal agenesis, grade I hydronephrosis on left, hernias, poor swallow | 0/mm3, day 115 | 305 cpm (128 cpm) day 119 |
| DIG009, day 75 | 22q11 hemi | Hypocalcemia, aberrant right subclavian artery | 0/mm3, days 17 and 42 | Not done |
| DIG010, day 53 | 22q11 normal CHARGE | GER, PDA, choanal atresia, hearing loss, bilat colobomas, hydoureteral reflux grade 4, hydronephrosis, microphallus, undescended testes | 22/mm3, day 43 | 426 cpm (219 cpm) day 43 |
| DIG011, day 67 | 22q11 normal CHARGE | Bilat coloboma, AV canal, complete right sided cleft lip and palate, developmental delay, decreased hearing, hypocalcemia, inguinal hernias, GER, partial agenesis of corpus callosum, single left kidney, grade I hydronephrosis | 0/mm3, day 41 | 204 cpm (340 cpm) day 41 |
| DIG012, day 82 | 22q11 normal | Truncus, hypocalcemia, hemivertebra T10-11 on left, GER | 0/mm3, day 27 | 1 701 cpm (476 cpm) day 32 |
| DIG016, day 107 | 22q11 hemi CHARGE | PDA, TOF, hypoplastic right and left PA, VSD, hypocalcemia, single right kidney, hydroureteronephrosis, decreased hearing, GER | 0/mm3, days 41 and 86 | 1 318 cpm (677 cpm) day 41 |
tx indicates transplantation; PHA, phytohemagglutinin; bkg, background; PDA, patent ductus arteriosis; GER, gastroesophageal reflux; cpm, counts per minute; hemi, hemizygous; ASD, atrial septal defect; CMV, cytomegalovirus; SVC, superior vena cava; TOF, tetralogy of Fallot; IAA, interrupted aortic arch; VSD, ventricular septal defect; AV, atrial ventricular; and PA, pulmonary atresia
The ages in this table are days of life
Occasional DiGeorge syndrome patients have been identified who are hemizygous for 10p13.34 These patients can always be detected by high-resolution chromosome banding (P. Scambler, personal e-mail communication, April 2002), which was done on each patient who was not 22q11 hemizygous. No patient was hemizygous for 10p13
Normal values are as follows: normal T-cell count for age 2 days to 11 months is 1700 to 3600/mm3 for the 25th to 75th percentile35 ; the mean control PHA response for these assays was 223 701 cpm (± 1 SD was 144 954 cpm to 345 226 cpm). The background represents the cpm of cells incubated with medium only
Patients DIG001-DIG005 were reported previously.23,28,36
This data point was obtained from the referring hospital
The T-cell count is given from day 59 of life since this is the first day that naive cells were examined. Earlier total T-cell counts were similar. No genetic testing was done on these T cells prior to transplantation. On day 63 after transplantation 16% of the circulating T cells were female (donor). By 2 years, all sorted T cells were male. An additional less sensitive test (sex chromosome analysis of PBMCs) showed only male cells on day 79 after transplantation
The PHA response reported is the first one obtained. Although it looks higher than that of the other patients, on that same day the concanavalin A (ConA) response was 749 cpm with a background of 964 cpm. Two weeks later, the PHA response was only 1269 cpm with a background of 573 cpm. The ConA response on this date was 1864 cpm with a background of 573. Thus, this patient is similar to the others in lack of T-cell function