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Hyper-IgM syndrome with CHARGE association

Pilar Bahillo1, Teresa Cantero, Pilar Solís

  • 1Department of Pediatrics, Hospital Clínico, University of Valladolid, Valladolid, Spain.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology
|December 17, 2003
PubMed

Insights

This report details the first case of CHARGE association and hyper-IgM (HIM) syndrome co-occurring in a single patient. The patient showed immune deficiencies and genetic results were normal, suggesting a potential link.

Area of Science:

  • Pediatric genetics
  • Immunology
  • Rare disease research

Background:

  • CHARGE association is a rare genetic disorder with diverse symptoms.
  • Hyper-IgM (HIM) syndrome is an immunodeficiency characterized by specific immunoglobulin level abnormalities.

Observation:

  • A pediatric patient diagnosed with CHARGE association presented with recurrent otitis and septicemia.
  • Immunological evaluation revealed decreased IgG and IgA, increased IgM, and normal cellular immunity, consistent with HIM syndrome.

Findings:

  • Genetic sequencing for CD40 ligand and cytidine deaminase genes in the patient yielded normal results.
  • The patient responded well to intravenous immunoglobulin therapy.

Implications:

  • This case highlights the potential co-occurrence of CHARGE association and HIM syndrome.
  • Further research is needed to elucidate the underlying mechanisms and potential non-random association between these two conditions.

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