UNC13D Deficiency Associated With Epileptic Seizures and Antibody Deficiency: The First Case from the Iranian National Registry

J Investig Allergol Clin Immunol. 2019 Apr;29(2):160-162. doi: 10.18176/jiaci.0362.
No abstract available

Keywords: FHL-3; Hemophagocytic lymphohistiocytosis (HLH); UNC13D.

Publication types

  • Case Reports

MeSH terms

  • Agammaglobulinemia* / drug therapy
  • Agammaglobulinemia* / genetics
  • Agammaglobulinemia* / immunology
  • B-Lymphocytes / immunology
  • Humans
  • Immunoglobulins, Intravenous / therapeutic use
  • Infant
  • Iran
  • Lymphohistiocytosis, Hemophagocytic / drug therapy
  • Lymphohistiocytosis, Hemophagocytic / genetics*
  • Lymphohistiocytosis, Hemophagocytic / immunology
  • Male
  • Membrane Proteins / deficiency*
  • Membrane Proteins / genetics
  • Mutation
  • Registries
  • Seizures* / drug therapy
  • Seizures* / genetics
  • Seizures* / immunology

Substances

  • Immunoglobulins, Intravenous
  • Membrane Proteins
  • UNC13D protein, human