Successful clinical treatment and functional immunological normalization of human MALT1 deficiency following hematopoietic stem cell transplantation

Publication date: Available online 22 April 2016
Source:Clinical Immunology
Author(s): Jacob Rozmus, Rachel McDonald, Shan-Yu Fung, Kate L. Del Bel, Juliana Roden, Christof Senger, Kirk R. Schultz, Margaret L. McKinnon, Jeffrey Davis, Stuart E. Turvey
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.



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