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

Rozmus, Jacob; McDonald, Rachel; Fung, Shan-Yu; Del Bel, Kate L; Roden, Juliana; Senger, Christof; Schultz, Kirk R; McKinnon, Margaret L; Davis, Jeffrey; Turvey, Stuart E

Rozmus, Jacob; McDonald, Rachel; Fung, Shan-Yu; Del Bel, Kate L; Roden, Juliana; Senger, Christof; Schultz, Kirk R; McKinnon, Margaret L; Davis, Jeffrey; Turvey, Stuart E.

Afiliação

Rozmus J; Department of Pediatrics, BC Children's Hospital, Child & Family Research Institute, University of British Columbia, Vancouver, BC, Canada.
McDonald R; Department of Pediatrics, BC Children's Hospital, Child & Family Research Institute, University of British Columbia, Vancouver, BC, Canada.
Fung SY; Department of Pediatrics, BC Children's Hospital, Child & Family Research Institute, University of British Columbia, Vancouver, BC, Canada.
Del Bel KL; Department of Pediatrics, BC Children's Hospital, Child & Family Research Institute, University of British Columbia, Vancouver, BC, Canada.
Roden J; Department of Pediatrics, BC Children's Hospital, Child & Family Research Institute, University of British Columbia, Vancouver, BC, Canada.
Senger C; Pathology and Laboratory Medicine, BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada.
Schultz KR; Department of Pediatrics, BC Children's Hospital, Child & Family Research Institute, University of British Columbia, Vancouver, BC, Canada.
McKinnon ML; Medical Genetics, Child & Family Research Institute, BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada.
Davis J; Department of Pediatrics, BC Children's Hospital, Child & Family Research Institute, University of British Columbia, Vancouver, BC, Canada.
Turvey SE; Department of Pediatrics, BC Children's Hospital, Child & Family Research Institute, University of British Columbia, Vancouver, BC, Canada. Electronic address: sturvey@cw.bc.ca.

Clin Immunol ; 168: 1-5, 2016 07.

Article em En | MEDLINE | ID: mdl-27109639

ABSTRACT

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.

Assuntos

Caspases/genética; Transplante de Células-Tronco Hematopoéticas/métodos; Síndromes de Imunodeficiência/terapia; Mutação; Proteínas de Neoplasias/genética; Adolescente; Caspases/deficiência; Caspases/metabolismo; Células Cultivadas; Humanos; Síndromes de Imunodeficiência/genética; Síndromes de Imunodeficiência/metabolismo; Leucócitos Mononucleares/metabolismo; Proteína de Translocação 1 do Linfoma de Tecido Linfoide Associado à Mucosa; NF-kappa B/metabolismo; Proteínas de Neoplasias/deficiência; Proteínas de Neoplasias/metabolismo; Transdução de Sinais; Resultado do Tratamento

Palavras-chave

CARD11BCL10MALT1 (CBM) signalosome complex; Combined immunodeficiency; Hematopoietic stem cell transplantation (HSCT); MALT1 mutations; NF-κB; Paracaspase

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Transplante de Células-Tronco Hematopoéticas / Caspases / Síndromes de Imunodeficiência / Mutação / Proteínas de Neoplasias Limite: Adolescent / Humans Idioma: En Ano de publicação: 2016 Tipo de documento: Article

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