Autoimmune thyroid disease following hematopoietic stem cell transplantation          in childhood cancer survivors

Shimazaki, Shuji; Kazukawa, Itsuro; Minagawa, Masahiro

doi:10.1297/cpe.2021-0059

Cited by 4 publications

(1 citation statement)

References 22 publications

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“…However, significantly, chronic graft-versus-host disease (GVHD) may develop if immune tolerance induction is aberrant [ 5 ]. Several reports have described Graves’ disease as having evolved following allogeneic HSCT for aplastic anemia, and they proposed associated factors for the rare coincidence including GVHD, use of rabbit antithymocyte globulins (rATG), and adoptive transfer of donor pathogenic lymphocytes [ 6 , 7 , 8 , 9 , 10 , 11 ]. Here, we report a case of coincident Graves’ disease during post-transplant immune reconstitution in a boy displaying bone marrow failure and carrying germline SAMD9L and FLT3 variants.…”

Section: Introductionmentioning

confidence: 99%

Evolution of Graves’ Disease during Immune Reconstitution following Nonmyeloablative Haploidentical Peripheral Blood Stem Cell Transplantation in a Boy Carrying Germline SAMD9L and FLT3 Variants

Fang

Shen

et al. 2022

IJMS

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Graves’ disease, characterized by hyperthyroidism resulting from loss of immune tolerance to thyroid autoantigens, may be attributable to both genetic and environmental factors. Allogeneic hematopoietic stem cell transplantation (HSCT) represents a means to induce immunotolerance via an artificial immune environment. We present a male patient with severe aplastic anemia arising from a germline SAMD9L missense mutation who successfully underwent HSCT from his HLA-haploidentical SAMD9L non-mutated father together with nonmyeloablative conditioning and post-transplant cyclophosphamide at 8 years of age. He did not suffer graft-versus-host disease, but Graves’ disease evolved 10 months post-transplant when cyclosporine was discontinued for one month. Reconstitution of peripheral lymphocyte subsets was found to be transiently downregulated shortly after Graves’ disease onset but recovered upon antithyroid treatment. Our investigation revealed the presence of genetic factors associated with Graves’ disease, including HLA-B*46:01 and HLA-DRB1*09:01 haplotypes carried by the asymptomatic donor and germline FLT3 c.2500C>T mutation carried by both the patient and the donor. Given his current euthyroid state with normal hematopoiesis, the patient has returned to normal school life. This rare event of Graves’ disease in a young boy arising from special HSCT circumstances indicates that both the genetic background and the HSCT environment can prompt the evolution of Graves’ disease.

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