HSCT corrects primary immunodeficiency and immune dysregulation in patients with POMP-related autoinflammatory disease
Journal
Blood
ISSN
0006-4971
1528-0020
Date Issued
2021
Author(s)
Caridad Martinez
Frédéric Ebstein
Sarah K. Nicholas
Marietta De Guzman
Lisa R. Forbes
Ottavia M. Delmonte
Marita Bosticardo
Riccardo Castagnoli
Robert Krance
Luigi D. Notarangelo
Elke Krüger
Jordan S. Orange
M. Cecilia Poli
Type
Resource Types::text::journal::journal article
URL Institutional Repository
Subjects
proteasome subunit
;
thymoproteasome
;
lipodystrophy
;
mutations
;
defect
;
child, preschool
;
cytokines
;
hematopoietic stem cell transplantation
;
humans
;
immunologic deficiency syndromes
;
interferon type i
;
t-lymphocytes
;
abatacept
;
antimycobacterial agent
;
caspase
;
cd4 antigen
;
cd8 antigen
;
cell protein
;
chaperone
;
chymotrypsin
;
cyclosporine
;
interferon
;
proteasome
;
proteasome maturation protein
;
proteinase
;
ruxolitinib
;
steroid
;
tryptase
;
unclassified drug
;
cytokine
;
interferon
;
acute febrile neutrophilic dermatosis
;
acute graft versus host disease
;
allogeneic hematopoietic stem cell transplantation
;
amino acid sequence
;
atypical mycobacteriosis
;
autoimmunity
;
autoinflammatory disease
;
bacterial infection
;
case report
;
chronic graft versus host disease
;
clinical article
;
combined immunodeficiency
;
cytokine release
;
cytomegalovirus
;
disease severity
;
dna determination
;
engraftment
;
engraftment syndrome
;
follow up
;
high throughput sequencing
;
human
;
human cell
;
immune deficiency
;
immune dysregulation
;
immunosuppressive treatment
;
in vitro study
;
infant
;
interferonopathy
;
letter
;
major histocompatibility complex
;
memory t lymphocyte
;
neutrophil
;
opportunistic infection
;
pneumocystosis
;
pomp related autoinflammatory disease
;
proteasome associated autoinflammatory syndrome
;
protein homeostasis
;
recurrent disease
;
regulatory t lymphocyte
;
risk
;
t lymphocyte activation
;
t lymphocyte subpopulation
;
thrombocyte
;
unrelated donor
;
upregulation
;
virus infection
;
hematopoietic stem cell transplantation
;
immune deficiency
;
immunology
;
preschool child
;
t lymphocyte