A novel Rab27a mutation binds melanophilin, but not Munc13-4, causing immunodeficiency without albinism

J Allergy Clin Immunol. 2016 Aug;138(2):599-601.e3. doi: 10.1016/j.jaci.2015.12.1337. Epub 2016 Mar 23.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing / metabolism*
  • Albinism / genetics
  • Albinism / immunology
  • Albinism / metabolism
  • Amino Acid Substitution
  • Consanguinity
  • Female
  • Genes, Recessive
  • Humans
  • Immunologic Deficiency Syndromes / genetics*
  • Immunologic Deficiency Syndromes / immunology
  • Immunologic Deficiency Syndromes / metabolism
  • Killer Cells, Natural / immunology
  • Killer Cells, Natural / metabolism
  • Lymphohistiocytosis, Hemophagocytic / genetics
  • Lymphohistiocytosis, Hemophagocytic / immunology
  • Lymphohistiocytosis, Hemophagocytic / metabolism
  • Male
  • Membrane Proteins / metabolism*
  • Mutation, Missense*
  • Pedigree
  • Piebaldism / genetics
  • Piebaldism / immunology
  • Piebaldism / metabolism
  • Primary Immunodeficiency Diseases
  • Protein Binding / genetics
  • rab27 GTP-Binding Proteins / genetics*
  • rab27 GTP-Binding Proteins / metabolism*

Substances

  • Adaptor Proteins, Signal Transducing
  • MLPH protein, human
  • Membrane Proteins
  • UNC13D protein, human
  • rab27 GTP-Binding Proteins
  • RAB27A protein, human

Supplementary concepts

  • Griscelli syndrome type 2