Trichohepatoenteric Syndrome Presenting with Severe Infection and Later Onset Diarrhoea

J Clin Immunol. 2018 Jan;38(1):1-3. doi: 10.1007/s10875-017-0460-0. Epub 2017 Nov 10.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Cytomegalovirus / physiology*
  • Cytomegalovirus Infections / diagnosis*
  • DNA Helicases / genetics*
  • Diarrhea
  • Diarrhea, Infantile / diagnosis*
  • Diarrhea, Infantile / genetics
  • Facies
  • Female
  • Fetal Growth Retardation / diagnosis*
  • Fetal Growth Retardation / genetics
  • Forehead / abnormalities
  • Hair / abnormalities
  • Hair Diseases / diagnosis*
  • Hair Diseases / genetics
  • Homozygote
  • Humans
  • Infant
  • Infant Formula
  • Infant, Newborn
  • Male
  • Mutation / genetics
  • Pneumocystis carinii / physiology*
  • Pneumonia, Pneumocystis / diagnosis*
  • Pneumonia, Pneumocystis / genetics
  • Pregnancy
  • Respiratory Distress Syndrome, Adult

Substances

  • DNA Helicases
  • SKIV2L protein, human

Supplementary concepts

  • Trichohepatoenteric Syndrome