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Antibody deficiency with hyper IgM--a case report.

L M Noh1, S M Low, I Lajin

  • 1Department of Paediatrics, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur.

The Malaysian Journal of Pathology
|December 1, 1992
PubMed
Summary
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A rare antibody deficiency with hyper IgM syndrome caused recurrent infections and failure to thrive in an Indian boy. Despite treatment, the patient succumbed to Pseudomonas aeruginosa infections, highlighting the condition's severity.

Area of Science:

  • Immunology
  • Pediatrics
  • Infectious Diseases

Background:

  • Primary immunodeficiency disorders are rare genetic conditions affecting the immune system.
  • Antibody deficiency with hyper IgM (HIM) is a rare subset characterized by normal or elevated IgM but low levels of other immunoglobulin isotypes.
  • HIM predisposes patients to recurrent bacterial infections and other complications.

Observation:

  • A 20-month-old Indian boy presented with recurrent pyogenic infections and failure to thrive.
  • Laboratory findings revealed low IgG and IgA, elevated IgM, undetectable isohaemagglutinin titre, and neutropenia.
  • These clinical and laboratory parameters are indicative of antibody deficiency with hyper IgM.

Findings:

  • The patient's condition was diagnosed as antibody deficiency with hyper IgM, a rare primary immunodeficiency.

Related Experiment Videos

  • Poor prognostic indicators, including undetectable isohaemagglutinin titre and neutropenia, were noted.
  • Despite aggressive treatment with antibiotics and intravenous immunoglobulin, the patient developed severe Pseudomonas aeruginosa septicaemia and meningitis.

    • Implications:

    • This case underscores the severe and often fatal consequences of untreated or refractory antibody deficiency with hyper IgM.
    • The documentation of this case in Malaysia is significant for regional awareness and diagnosis of rare immunodeficiencies.
    • Early diagnosis and management strategies are crucial for improving outcomes in patients with HIM.