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Successful clinical treatment and functional immunological normalization of human MALT1 deficiency following hematopoietic stem cell transplantation.
- Source :
-
Clinical immunology (Orlando, Fla.) [Clin Immunol] 2016 Jul; Vol. 168, pp. 1-5. Date of Electronic Publication: 2016 Apr 22. - Publication Year :
- 2016
-
Abstract
- MALT1 mutations impair normal NF-κB activation and paracaspase activity to cause a novel combined immunodeficiency. The clinical and immunological phenotype of MALT1 deficiency can be successfully treated with hematopoietic stem cell transplantation following reduced intensity conditioning.<br /> (Copyright © 2016 Elsevier Inc. All rights reserved.)
- Subjects :
- Adolescent
Caspases deficiency
Caspases metabolism
Cells, Cultured
Humans
Immunologic Deficiency Syndromes genetics
Immunologic Deficiency Syndromes metabolism
Leukocytes, Mononuclear metabolism
Mucosa-Associated Lymphoid Tissue Lymphoma Translocation 1 Protein
NF-kappa B metabolism
Neoplasm Proteins deficiency
Neoplasm Proteins metabolism
Signal Transduction
Treatment Outcome
Caspases genetics
Hematopoietic Stem Cell Transplantation methods
Immunologic Deficiency Syndromes therapy
Mutation
Neoplasm Proteins genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1521-7035
- Volume :
- 168
- Database :
- MEDLINE
- Journal :
- Clinical immunology (Orlando, Fla.)
- Publication Type :
- Academic Journal
- Accession number :
- 27109639
- Full Text :
- https://doi.org/10.1016/j.clim.2016.04.011