A novel form of non-X-linked hyperigm associated with growth and pubertal disturbances and with lymphoma development

J Pediatr. 2006 Mar;148(3):404-6. doi: 10.1016/j.jpeds.2005.10.033.

Abstract

HyperIgM syndrome is a heterogenous immunodeficiency characterized by impaired class-switch recombination due to different molecular abnormalities. We report on two female patients affected by a novel syndrome associating HIGM, growth and pubertal disturbances, and severe lymphoid hyperplasia with eventual development into lymphomas, suggesting a DNA repair defect.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Child
  • Female
  • Growth Disorders / genetics*
  • Humans
  • Hypergammaglobulinemia / genetics*
  • Immunoglobulin M / blood*
  • Lymphatic Diseases / genetics
  • Lymphoma, B-Cell / genetics*
  • Puberty, Delayed / genetics*

Substances

  • Immunoglobulin M