Clinical presentation, immunologic features, and hematopoietic stem cell transplant outcomes for IKBKB immune deficiency

Clinical presentation, immunologic features, and hematopoietic stem cell transplant outcomes for IKBKB immune deficiency

Copyright © 2018 Elsevier Inc. All rights reserved.

Bibliographische Detailangaben
Veröffentlicht in:Clinical immunology (Orlando, Fla.). - 1999. - 205(2019) vom: 05. Aug., Seite 138-147
1. Verfasser: Cuvelier, Geoffrey D E (VerfasserIn)
Weitere Verfasser: Rubin, Tamar S, Junker, Anne, Sinha, Roona, Rosenberg, Alan M, Wall, Donna A, Schroeder, Marlis L
Format: Online-Aufsatz
Sprache:English
Veröffentlicht: 2019
Zugriff auf das übergeordnete Werk:Clinical immunology (Orlando, Fla.)
Schlagworte:Journal Article Combined Immune Deficiency Hematopoietic Stem Cell Transplant IKBKB IKK/NF-κB IKKβ (IKK2) I-kappa B Kinase EC 2.7.11.10 IKBKB protein, human
Beschreibung
Zusammenfassung:Copyright © 2018 Elsevier Inc. All rights reserved.
IKBKB immune deficiency is a rare but life-threatening primary immunodeficiency disorder, involving activation defects in adaptive and innate immunity. We present sixteen cases of a homozygous IKBKB mutation (c.1292dupG) in infants characterized by early-onset bacterial, viral, fungal and Mycobacterial infections. In most cases, T- and B-cells were quantitatively normal, but phenotypically naïve, with severe hypogammaglobulinemia. T-cell receptor excision circles were normal, meaning newborn screening by TREC analysis would miss IKBKB cases. Although IKBKB immune deficiency does not meet traditional laboratory based definitions for SCID, this combined immune deficiency appears to be at least as profound. Urgent HSCT, performed in eight patients, remains the only known curative therapy, although only three patients are survivors. Ongoing infections after transplant remain a concern, and may be due to combinations of poor social determinants of health, secondary graft failure, and failure of HSCT to replace non-hematopoietic cells important in immune function and dependent upon IKK/NF-κB pathways
Beschreibung:Date Completed 20.04.2020
Date Revised 20.04.2020
published: Print-Electronic
Citation Status MEDLINE
ISSN:1521-7035
DOI:10.1016/j.clim.2018.10.019