Human immune disorder associated with homozygous hypomorphic mutation affecting MALT1B splice variant

J Allergy Clin Immunol. 2021 Feb;147(2):775-778.e8. doi: 10.1016/j.jaci.2020.07.034. Epub 2020 Aug 25.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Consanguinity
  • Female
  • Humans
  • Immune System Diseases / genetics*
  • Mucosa-Associated Lymphoid Tissue Lymphoma Translocation 1 Protein / genetics*
  • Mutation, Missense
  • Pedigree
  • Protein Isoforms

Substances

  • Protein Isoforms
  • MALT1 protein, human
  • Mucosa-Associated Lymphoid Tissue Lymphoma Translocation 1 Protein