Atypical Autoimmune Hematologic Disorders in a Patient With Kabuki Syndrome

J Pediatr Hematol Oncol. 2019 Mar;41(2):e114-e115. doi: 10.1097/MPH.0000000000001182.

Abstract

Kabuki syndrome is a rare genetic disorder characterized by congenital anomalies and developmental delay. It is often associated with impaired immune response and autoimmune abnormalities. We report the clinical case of a girl with Kabuki syndrome who developed autoimmune neutropenia, not previously reported, followed by hemolytic anemia and autoimmune thrombocytopenia.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple* / genetics
  • Abnormalities, Multiple* / pathology
  • Anemia, Hemolytic* / etiology
  • Anemia, Hemolytic* / genetics
  • Anemia, Hemolytic* / pathology
  • Child, Preschool
  • Face / abnormalities*
  • Face / pathology
  • Female
  • Hematologic Diseases* / complications
  • Hematologic Diseases* / genetics
  • Hematologic Diseases* / pathology
  • Humans
  • Neutropenia* / etiology
  • Neutropenia* / genetics
  • Neutropenia* / pathology
  • Purpura, Thrombocytopenic, Idiopathic* / etiology
  • Purpura, Thrombocytopenic, Idiopathic* / genetics
  • Purpura, Thrombocytopenic, Idiopathic* / pathology
  • Vestibular Diseases* / complications
  • Vestibular Diseases* / genetics
  • Vestibular Diseases* / pathology

Supplementary concepts

  • Kabuki syndrome