Mild humoral immunodeficiency in a patient with X-linked Kabuki syndrome

Am J Med Genet A. 2016 Mar;170(3):801-3. doi: 10.1002/ajmg.a.37499. Epub 2015 Dec 24.
No abstract available

Publication types

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

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / drug therapy
  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / immunology*
  • Alleles
  • Complement System Proteins / immunology
  • Face / abnormalities*
  • Gene Frequency
  • Genetic Diseases, X-Linked / diagnosis
  • Genetic Diseases, X-Linked / drug therapy
  • Genetic Diseases, X-Linked / genetics*
  • Genetic Diseases, X-Linked / immunology*
  • Hematologic Diseases / diagnosis
  • Hematologic Diseases / drug therapy
  • Hematologic Diseases / genetics*
  • Hematologic Diseases / immunology*
  • Hemizygote
  • Histone Demethylases / genetics
  • Humans
  • Immunity, Humoral*
  • Immunoglobulin Isotypes / blood
  • Immunoglobulin Isotypes / immunology
  • Infant
  • Lymphocyte Activation / immunology
  • Lymphocyte Subsets / immunology
  • Lymphocyte Subsets / metabolism
  • Male
  • Mutation
  • Nuclear Proteins / genetics
  • Transmembrane Activator and CAML Interactor Protein / genetics
  • Vestibular Diseases / diagnosis
  • Vestibular Diseases / drug therapy
  • Vestibular Diseases / genetics*
  • Vestibular Diseases / immunology*

Substances

  • Immunoglobulin Isotypes
  • Nuclear Proteins
  • TNFRSF13B protein, human
  • Transmembrane Activator and CAML Interactor Protein
  • Complement System Proteins
  • Histone Demethylases
  • KDM6A protein, human

Supplementary concepts

  • Kabuki syndrome