Hyper-IgM syndrome: a case report

J Microbiol Immunol Infect. 2003 Sep;36(3):215-7.

Abstract

Hyperimmunoglobulin M syndrome is a rare primary immunodeficiency disorder. We report a case of a 6-month-old boy who suffered from developmental delays, frequent respiratory tract infection, and unusual fungal and bacterial infection. X-linked hyperimmunoglobulin M syndrome was ultimately diagnosed with decreasing immunoglobulin-G, A, and E (immunoglobulin G = 51.3 mg/dL, immunoglobulin A = 8.32 mg/dL, immunoglobulin E <17.5 mg/dL), elevating immunoglobulin M (immunoglobulin M = 140 mg/dL), and decreasing T-cell expression of the CD40 ligand over flow cytometry. Seizure episodes and hypotonia developed with greater signal intensity at the putamen in a brain magnetic resonance imaging, which is compatible with hypoxic ischemic encephalopathy. This is the youngest proven case of hyper-IgM syndrome in Taiwan ever reported.

Publication types

  • Case Reports

MeSH terms

  • CD4-Positive T-Lymphocytes / immunology
  • CD40 Ligand / metabolism
  • Chromosomes, Human, X / genetics
  • Genetic Linkage
  • Humans
  • Hypergammaglobulinemia / complications
  • Hypergammaglobulinemia / genetics
  • Hypergammaglobulinemia / immunology*
  • Hypergammaglobulinemia / therapy
  • Hypoxia-Ischemia, Brain / etiology
  • Immunoglobulin M / blood*
  • Immunoglobulins, Intravenous / therapeutic use
  • Immunologic Deficiency Syndromes / complications
  • Immunologic Deficiency Syndromes / genetics
  • Immunologic Deficiency Syndromes / immunology*
  • Immunologic Deficiency Syndromes / therapy
  • Infant
  • Male
  • Seizures / etiology

Substances

  • Immunoglobulin M
  • Immunoglobulins, Intravenous
  • CD40 Ligand