Fulminant autoimmune hepatitis in a girl with 22q13 deletion syndrome: A previously unreported association

Maria Tufano, Claudia Della Corte, Francesco Cirillo, Maria Immacolata Spagnuolo, Manila Candusso, Daniela Melis, Giuliano Torre, Raffaele Iorio

Research output: Contribution to journalArticlepeer-review

Abstract

We report a 7-year-old girl with 22q13 deletion syndrome, 46,XX,Ish del(22)(q13.3)(ARSA-; D22S1726), who developed a fulminant autoimmune hepatitis requiring orthotopic liver transplantation. Recently, it has been suggested that the Shank3 gene product, whose deficiency is responsible for the features observed in this syndrome, could play a role in immunological response. Despite an increased incidence of respiratory infections, autoimmune diseases have thus far not been reported in patients with this syndrome. This is the first case of fulminant autoimmune hepatitis associated with the 22q13 deletion syndrome. The possible relationships between immune system dysfunctions peculiar of this syndrome and autoimmune hepatitis are discussed.

Original languageEnglish
Pages (from-to)225-227
Number of pages3
JournalEuropean Journal of Pediatrics
Volume168
Issue number2
DOIs
Publication statusPublished - Feb 2009

Keywords

  • 22q13 syndrome
  • Autoimmune hepatitis
  • Shank3 protein

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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