Successful clinical treatment and functional immunological normalization of human MALT1 deficiency following hematopoietic stem cell transplantation.
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.
Department of Pediatrics, BC Children's Hospital, Child & Family Research Institute, University of British Columbia, Vancouver, BC, Canada.
Jacob
J
Rozmus
Department of Pediatrics, BC Children's Hospital, Child & Family Research Institute, University of British Columbia, Vancouver, BC, Canada.
Rachel
R
McDonald
Department of Pediatrics, BC Children's Hospital, Child & Family Research Institute, University of British Columbia, Vancouver, BC, Canada.
Shan-Yu
SY
Fung
Department of Pediatrics, BC Children's Hospital, Child & Family Research Institute, University of British Columbia, Vancouver, BC, Canada.
Kate L
KL
Del Bel
Department of Pediatrics, BC Children's Hospital, Child & Family Research Institute, University of British Columbia, Vancouver, BC, Canada.
Juliana
J
Roden
Pathology and Laboratory Medicine, BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada.
Christof
C
Senger
Department of Pediatrics, BC Children's Hospital, Child & Family Research Institute, University of British Columbia, Vancouver, BC, Canada.
Kirk R
KR
Schultz
Medical Genetics, Child & Family Research Institute, BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada.
Margaret L
ML
McKinnon
Department of Pediatrics, BC Children's Hospital, Child & Family Research Institute, University of British Columbia, Vancouver, BC, Canada.
Jeffrey
J
Davis
Department of Pediatrics, BC Children's Hospital, Child & Family Research Institute, University of British Columbia, Vancouver, BC, Canada. Electronic address: sturvey@cw.bc.ca.
Stuart E
SE
Turvey
D000293:Adolescent; D020169:Caspases / Q000172:deficiency / Q000235:genetics* / Q000378:metabolism; D002478:Cells, Cultured; D018380:Hematopoietic Stem Cell Transplantation / Q000379:methods*; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics / Q000378:metabolism / Q000628:therapy*; D007963:Leukocytes, Mononuclear / Q000378:metabolism; D000074884:Mucosa-Associated Lymphoid Tissue Lymphoma Translocation 1 Protein; D009154:Mutation; D016328:NF-kappa B / Q000378:metabolism; D009363:Neoplasm Proteins / Q000172:deficiency / Q000235:genetics* / Q000378:metabolism; D015398:Signal Transduction; D016896:Treatment Outcome
D016328:NF-kappa B; D009363:Neoplasm Proteins; D020169:Caspases; C400109:MALT1 protein, human; D000074884:Mucosa-Associated Lymphoid Tissue Lymphoma Translocation 1 Protein
CARD11–BCL10–MALT1 (CBM) signalosome complex; Combined immunodeficiency; Hematopoietic stem cell transplantation (HSCT); MALT1 mutations; NF-κB; Paracaspase