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Correction of both immunodeficiency and hypoparathyroidism by thymus transplantation in complete DiGeorge syndrome
Author(s) -
Kreins Alexandra Y.,
Junghanns Florence,
Mifsud William,
Somana Kathy,
Sebire Neil,
Rampling Dyanne,
Worth Austen,
Sirin Methap,
Schuetz Catharina,
Schulz Ansgar,
Hoenig Manfred,
Thrasher Adrian J.,
Davies Edward G.
Publication year - 2020
Publication title -
american journal of transplantation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.89
H-Index - 188
eISSN - 1600-6143
pISSN - 1600-6135
DOI - 10.1111/ajt.15668
Subject(s) - hypoparathyroidism , medicine , digeorge syndrome , transplantation , immunodeficiency , immune system , biopsy , severe combined immunodeficiency , surgery , immunology , biology , psychiatry , gene , biochemistry
Combined immune deficiency due to athymia in patients with complete DiGeorge syndrome can be corrected by allogeneic thymus transplantation. Hypoparathyroidism is a frequent concomitant clinical problem in these patients, which persists after thymus transplantation. Cotransplantation of allogeneic thymus and parental parathyroid tissue has been attempted but does not achieve durable correction of the patients' hypoparathyroidism due to parathyroid graft rejection. Surprisingly, we observed correction of hypoparathyroidism in one patient after thymus transplantation. Immunohistochemical analysis and fluorescence in situ hybridization confirmed the presence of allogeneic parathyroid tissue in the patient's thymus transplant biopsy. Despite a lack of HLA‐matching between thymus donor and recipient, the reconstituted immune system displays tolerance toward the thymus donor. Therefore we expect this patient's hypoparathyroidism to be permanently cured. It is recognised that ectopic parathyroid tissue is not infrequently found in the thymus. If such thymuses could be identified, we propose that their use would offer a compelling approach to achieving lasting correction of both immunodeficiency and hypoparathyroidism.