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Disseminated BCG as a unique feature of an infant with severe combined immunodeficiency

Sayna Norouzi1, Zahra Movahedi, Setareh Mamishi

  • 1Pediatric Infectious Diseases Research Center, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.

The Turkish Journal of Pediatrics
|October 11, 2011
PubMed

Insights

Severe combined immunodeficiency (SCID) in infants can present with recurrent infections and lymphadenopathy. Early diagnosis is crucial, especially in BCG-vaccinated regions, to manage this rare immune disorder.

Area of Science:

  • Pediatric Immunology
  • Infectious Diseases

Background:

  • Severe combined immunodeficiency (SCID) is a group of rare genetic disorders characterized by profound defects in T-cell, B-cell, and/or natural killer (NK) cell function.
  • SCID leads to severe susceptibility to opportunistic infections in early infancy.

Observation:

  • A five-month-old boy presented with recurrent diarrhea, respiratory infections, and lymphadenopathy.
  • Immunological workup revealed hypogammaglobulinemia and a low T-cell count, consistent with T- B+ SCID.
  • Lung necropsy identified advanced cytomegalovirus pneumonitis, and bone marrow and spleen analyses indicated Mycobacterium bovis infection.

Findings:

  • The case highlights T- B+ SCID presenting with opportunistic infections including cytomegalovirus pneumonitis and disseminated Mycobacterium bovis.
  • Lymphadenopathy served as a critical early indicator of the underlying immunodeficiency.

Implications:

  • This case underscores the importance of considering SCID in infants with persistent infections and lymphadenopathy, especially in Bacillus Calmette-Guérin (BCG) vaccinated populations.
  • Prompt immunological evaluation is essential for timely diagnosis and management of SCID to prevent severe, life-threatening infections.

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