The study purpose is to determine whether cultured thymus tissue implantation (CTTI) is effective in treating typical complete DiGeorge syndrome.
Who can participate
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Inclusion Criteria:
* The subject's parent(s) signed the ICF.
* For a diagnosis of DiGeorge Syndrome (DGS), the subject had one of the following:
* Heart defect
* Hypoparathyroidism
* 22q11 hemizygosity
* 10p13 hemizygosity
* Coloboma, heart defect, choanal atresia, growth and development retardation, genital hypoplasia, ear anomalies/ deafness CHARGE association mutation (CHD7 deletion);
* PHA proliferative responses less than 20-fold above background.
* Subjects with typical Complete DiGeorge Anomaly (cDGA) had to have one of the following on 2 separate occasions:
* Circulating CD3+ T cells by flow cytometry \< 50/mm3 or PHA \< 20-fold over background
* If CD3+ were \> 50/mm3, then CD45RA+ (cluster of differentiation 45RA) CD62L+ had to be \< 50/mm3
* Or T cell receptor rearrangement excision circles (TRECs) by PCR had to be \< 100 per 100,000 CD3+ cells.
* Subjects with atypical cDGA had to have both of the following with 2 studies each:
* Circulating CD3+ T cells by flow cytometry \> 500/mm3 and CD45RA+ CD62L+ CD3+ T cells \< 50/mm3 and TRECs less than 100 per 100,000 CD3+ cells.
* T cell proliferative response to PHA more than 20-fold over background. Circulating CD3+ T cells by flow cytometry \> 500/mm3 and CD45RA+ CD62L+ CD3+ T cells \< 50/mm3 and TRECs less than 100 per 100,000 CD3+ cells.
* T cell proliferative response to PHA more than 20-fold over background. While T cell response to PHA might have been seen, eligible subjects were to have…
What they're measuring
1
Survival at 1 Year Post-Cultured Thymus Tissue Implantation (CTTI)