Thymus Transplantation Dose in DiGeorge #932

Thymus Transplant Inclusion Criteria:

• A parent or guardian of the DGS subject signed the consent form.
• Medical screening was completed.
• For a diagnosis of DGS, the subject had to have one of the following:
• Congenital heart disease;
• Hypocalcemia requiring replacement;
• 22q11.2 hemizygosity or 10p13 hemizygosity;
• CHARGE association or CHD7 mutation;
• A subject with abnormal ears whose mother had diabetes (type I, type II, or gestational).
• To meet the criteria of typical complete DiGeorge Anomaly (cDGA), the subject had to have either:
• Circulating CD3+ T cell count by flow cytometry 18 years old
• Answers all questionnaire items and meets safety screening criteria
• Normal serum calcium
• Normal PTH function
• HLA typing consistent with parentage
• Parent chosen for donation will share HLA-DR allele in thymus donor; if not applicable, then either parent will be selected (if meet all other criteria).
• Must not be on anticoagulation or can come off for donation/transplantation

Parental Parathyroid Donor Exclusion:

• Donor is only living involved parent or caretaker of the recipient
• Hypoparathyroidism - low parathyroid hormone (PTH) in presence of low serum calcium and high serum phosphate
• Hyperparathyroidism (or history of) - elevated PTH in presence of high serum calcium and low serum phosphate
• History of cancer
• Evidence of any of following: HIV-1, HIV-2, HTLV-1, HTLV-2, syphilis, hepatitis B, hepatitis C, West Nile virus, or Trypanosoma Cruzi (Chagas disease)
• Elevated AST, ALT, alkaline phosphatase > 3 times upper limit of normal
• History including receipt of a xenograft or risk factors for SARS, Mad Cow - Disease or smallpox. Note: if parent has Mad Cow Disease risk factors (but not active disease), parent(s) may give permission for transplantation.
• CMV positive urine
• Positive CMV IgM antibodies
• Positive IgM anti-EBV VCA
• On blood thinners and cannot stop for the parathyroid donation
• Elevated PT or PTT (> ULN)
• Platelets < 100,000
• Positive Toxoplasma IgM
• The donor will receive a history and physical; may be excluded based on PI's medical judgment
• Hemoglobin < 9 g/dl
• Infectious lesion on head or neck
• Goiter on ultrasound
• Abnormal fiberoptic laryngoscopy of vocal cords
• Pregnancy
• Positive HSV IgG is not an exclusion; however, post transplantation prophylaxis is needed
• Positive VZV IgG is not an exclusion; however, post transplantation prophylaxis is needed
• Medical concern of otolaryngologist
• Concern by medical psychologist or social worker. Parents are interviewed together and separately regarding following areas: medical history; health habits; substance use; relationships and support; education/work history; mental status/psychological history; readiness for donation.
• Questionnaire (safety screening) responses can lead to exclusion.

Biological Mother of DiGeorge Subject Inclusion Criteria:

• Competent to provide consent
• Willing to provide blood for testing (No other inclusion/exclusion for mother)