IgG4 deficiency with Rothmund-Thomson syndrome: a case report

Eur J Pediatr. 1993 May;152(5):406-8. doi: 10.1007/BF01955898.

Abstract

We describe a patient with Rothmund-Thomson syndrome and IgG4 deficiency. In vitro examination of his peripheral mononuclear cells revealed impaired IgG4 synthesis. Susceptibility to sinus and pulmonary infections was cured by monthly immunoglobulin infusions.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Humans
  • IgG Deficiency / complications*
  • IgG Deficiency / immunology
  • Immunoglobulin G / biosynthesis
  • Immunoglobulin G / blood
  • Leukocytes, Mononuclear
  • Male
  • Rothmund-Thomson Syndrome / complications*
  • Rothmund-Thomson Syndrome / immunology

Substances

  • Immunoglobulin G