Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations.

Leiding J. W. , Okada S., Hagin D., Abinun M., Shcherbina A., Balashov D. N. , ...More

The Journal of allergy and clinical immunology, vol.141, no.2, 2018 (Journal Indexed in SCI Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 141 Issue: 2
  • Publication Date: 2018
  • Doi Number: 10.1016/j.jaci.2017.03.049
  • Title of Journal : The Journal of allergy and clinical immunology
  • Keywords: Hematopoietic stem cell transplantation, chronic mucocutaneous candidiasis, signal transducer and activator of transcription, Janus kinase, gain of function, graft-versus-host disease, graft rejection, hemophagocytic lymphohistiocytosis, CHRONIC MUCOCUTANEOUS CANDIDIASIS, BONE-MARROW-TRANSPLANTATION, FUNCTION STAT1 MUTATIONS, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, COMBINED IMMUNODEFICIENCY, CLINICAL PHENOTYPE, DEFICIENCY, RUXOLITINIB, RESPONSES, UNDERLIE


Background: Gain-of-function (GOF) mutations in signal transducer and activator of transcription 1 (STAT1) cause susceptibility to a range of infections, autoimmunity, immune dysregulation, and combined immunodeficiency. Disease manifestations can be mild or severe and life-threatening. Hematopoietic stem cell transplantation (HSCT) has been used in some patients with more severe symptoms to treat and cure the disorder. However, the outcome of HSCT for this disorder is not well established.