Opinion and Special Articles: Cerebellar Ataxia and Liver Failure Complicating IPEX Syndrome

Neurology. 2021 Feb 9;96(6):e956-e959. doi: 10.1212/WNL.0000000000011195. Epub 2020 Nov 9.
No abstract available

Publication types

  • Case Reports
  • Research Support, N.I.H., Intramural

MeSH terms

  • Adult
  • Cerebellar Ataxia / diagnosis*
  • Cerebellar Ataxia / etiology
  • Diabetes Mellitus / etiology
  • Diabetes Mellitus, Type 1 / complications
  • Diabetes Mellitus, Type 1 / congenital*
  • Diabetes Mellitus, Type 1 / diagnosis
  • Diabetes Mellitus, Type 1 / genetics
  • Diarrhea / complications
  • Diarrhea / diagnosis*
  • Diarrhea / genetics
  • Exome Sequencing
  • Forkhead Transcription Factors / genetics
  • Genetic Diseases, X-Linked / complications
  • Genetic Diseases, X-Linked / diagnosis*
  • Genetic Diseases, X-Linked / genetics
  • Humans
  • Immune System Diseases / complications
  • Immune System Diseases / congenital*
  • Immune System Diseases / diagnosis
  • Immune System Diseases / genetics
  • Liver Failure / etiology
  • Magnetic Resonance Imaging
  • Male
  • Pedigree
  • Young Adult

Substances

  • FOXP3 protein, human
  • Forkhead Transcription Factors

Supplementary concepts

  • Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome