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

Clin Immunol. 2016 Jul:168:1-5. doi: 10.1016/j.clim.2016.04.011. Epub 2016 Apr 22.

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.

Keywords: CARD11–BCL10–MALT1 (CBM) signalosome complex; Combined immunodeficiency; Hematopoietic stem cell transplantation (HSCT); MALT1 mutations; NF-κB; Paracaspase.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Caspases / deficiency
  • Caspases / genetics*
  • Caspases / metabolism
  • Cells, Cultured
  • Hematopoietic Stem Cell Transplantation / methods*
  • Humans
  • Immunologic Deficiency Syndromes / genetics
  • Immunologic Deficiency Syndromes / metabolism
  • Immunologic Deficiency Syndromes / therapy*
  • Leukocytes, Mononuclear / metabolism
  • Mucosa-Associated Lymphoid Tissue Lymphoma Translocation 1 Protein
  • Mutation*
  • NF-kappa B / metabolism
  • Neoplasm Proteins / deficiency
  • Neoplasm Proteins / genetics*
  • Neoplasm Proteins / metabolism
  • Signal Transduction
  • Treatment Outcome

Substances

  • NF-kappa B
  • Neoplasm Proteins
  • Caspases
  • MALT1 protein, human
  • Mucosa-Associated Lymphoid Tissue Lymphoma Translocation 1 Protein