| Literature DB >> 27109639 |
Jacob Rozmus1, Rachel McDonald1, Shan-Yu Fung1, Kate L Del Bel1, Juliana Roden1, Christof Senger2, Kirk R Schultz1, Margaret L McKinnon3, Jeffrey Davis1, Stuart E Turvey4.
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.Entities:
Keywords: CARD11–BCL10–MALT1 (CBM) signalosome complex; Combined immunodeficiency; Hematopoietic stem cell transplantation (HSCT); MALT1 mutations; NF-κB; Paracaspase
Mesh:
Substances:
Year: 2016 PMID: 27109639 DOI: 10.1016/j.clim.2016.04.011
Source DB: PubMed Journal: Clin Immunol ISSN: 1521-6616 Impact factor: 3.969