Successful Matched Related Bone Marrow Transplantation in a Patient with Autosomal Dominant Interferon Gamma Receptor 1 Deficiency

J Clin Immunol. 2020 Oct;40(7):1045-1047. doi: 10.1007/s10875-020-00826-2. Epub 2020 Jul 21.

Abstract

This is a report of a successful bone marrow transplant in an IFN-γR1 patient with progressive mycobacterial infection.

Purpose: Hematopoietic cell transplant in patients with interferon gamma receptor deficiencies has been fraught with challenges, not the least of which is failure of engraftment and infectious complications.

Methods: This is a report of a successful hematopoietic cell transplant in an actively infected patient of advanced age.

Results: This case report shows successful engraftment and resolution of infection posttransplant using a matched related donor in a single institution.

Conclusion: A successful curative HCT despite persistent, disseminated, nontuberculous mycobacterial infection in a patient with AD-IFNγR1 suggests that this approach, while difficult, may be useful in other patients with otherwise refractory disease.

Keywords: Interferon gamma receptor; hematopoietic cell transplant; infection; nontuberculous mycobacteria.

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Intramural

MeSH terms

  • Bone Marrow Transplantation*
  • Genes, Dominant*
  • Genetic Association Studies*
  • Genetic Predisposition to Disease*
  • Hematopoietic Stem Cell Transplantation
  • Humans
  • Interferon gamma Receptor
  • Mycobacterium Infections / diagnosis
  • Mycobacterium Infections / etiology
  • Mycobacterium Infections / therapy
  • Mycobacterium Infections, Nontuberculous / diagnosis
  • Mycobacterium Infections, Nontuberculous / etiology
  • Mycobacterium Infections, Nontuberculous / therapy
  • Receptors, Interferon / deficiency*
  • Severity of Illness Index
  • Transplantation, Homologous
  • Treatment Outcome

Substances

  • Receptors, Interferon