IKAROS gain of function disease Allogeneic hematopoietic cell transplantation experience and expanded clinical phenotypes

IKAROS gain of function disease : Allogeneic hematopoietic cell transplantation experience and expanded clinical phenotypes

Copyright © 2024. Published by Elsevier Inc.

Bibliographische Detailangaben
Veröffentlicht in:Clinical immunology (Orlando, Fla.). - 1999. - 260(2024) vom: 01. März, Seite 109922
1. Verfasser: Klangkalya, Natchanun (VerfasserIn)
Weitere Verfasser: Stoddard, Jennifer, Niemela, Julie, Sponaugle, Jennifer, Greenwell, Irl Brian, Reigh, Erin, Kuehn, Hye Sun, Kanakry, Jennifer A, Rosenzweig, Sergio D, Dimitrova, Dimana
Format: Online-Aufsatz
Sprache:English
Veröffentlicht: 2024
Zugriff auf das übergeordnete Werk:Clinical immunology (Orlando, Fla.)
Schlagworte:Journal Article Research Support, N.I.H., Intramural Allergy Autoimmunity Immune dysregulation Inborn errors of immunity Infections Malignancies Primary immunodeficiency Transcription factor mehr... IKZF1 protein, human Ikaros Transcription Factor 148971-36-2
Beschreibung
Zusammenfassung:Copyright © 2024. Published by Elsevier Inc.
IKAROS, encoded by IKZF1, is a tumor suppressor and a key hematopoietic transcription factor responsible for lymphoid and myeloid differentiation. IKZF1 mutations result in inborn errors of immunity presenting with increased susceptibility to infections, immune dysregulation, and malignancies. In particular, patients carrying IKZF1 gain-of-function (GOF) mutations mostly exhibit symptoms of immune dysregulation and polyclonal plasma cell proliferation. Herein, we describe seven new IKAROS GOF cases from two unrelated families, presenting with novel infectious, immune dysregulation and hematologic diseases. Two of the patients underwent allogeneic hematopoietic cell transplantation (HCT) due to poorly responsive complications. HCT was well-tolerated achieving full engraftment in both patients receiving reduced intensity, matched unrelated donor grafts, with no severe acute or chronic graft-vs-host-disease, and in remission from their diseases 2.5 and 4 years post-HCT, respectively. These results suggest that HCT is a valid and curative option in patients with IKAROS GOF disease and severe clinical manifestations
Beschreibung:Date Completed 19.02.2024
Date Revised 10.04.2024
published: Print-Electronic
Citation Status MEDLINE
ISSN:1521-7035
DOI:10.1016/j.clim.2024.109922