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Interleukin-12 receptor beta 1 chain deficiency in a child with disseminated tuberculosis

Namik Ozbek1, Claire Fieschi, Bafak T Yilmaz

  • 1Department of Pediatrics, Baskent University School of Medicine, Ankara, Turkey.

Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America
|March 1, 2005
PubMed

Insights

Interleukin-12 receptor beta 1 chain deficiency is an immunodeficiency to consider in children with disseminated tuberculosis and hemophagocytosis. This diagnosis is relevant even without a history of infections from weak pathogens.

Area of Science:

  • Immunology
  • Infectious Diseases
  • Genetics

Background:

  • Disseminated tuberculosis can present with secondary hemophagocytosis, a serious complication.
  • Interleukin-12 receptor beta 1 chain deficiency is a primary immunodeficiency affecting cellular immunity.
  • Weakly pathogenic Salmonella and Mycobacterium species are often associated with this deficiency.

Observation:

  • An 11-year-old girl presented with disseminated tuberculosis and secondary hemophagocytosis.
  • Genetic testing revealed a deficiency in the interleukin-12 receptor beta 1 chain.

Findings:

  • The patient's presentation of disseminated tuberculosis with hemophagocytosis was linked to interleukin-12 receptor beta 1 chain deficiency.
  • This case highlights a potential presentation of the immunodeficiency.

Implications:

  • Interleukin-12 receptor beta 1 chain deficiency should be considered in pediatric disseminated tuberculosis cases, particularly those with hemophagocytosis.
  • Screening for this immunodeficiency may be warranted even without a known history of infections by specific opportunistic pathogens.
  • Early diagnosis of this genetic immunodeficiency can guide appropriate management and genetic counseling.

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