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Generalized varicella in severe combined immunodeficiency with B lymphocytes
Insights
A six-month-old infant with severe combined immunodeficiency (SCID) died from disseminated varicella. This case highlights SCID
Area of Science:
- Immunology
- Pediatrics
- Oncology
Background:
- Severe combined immunodeficiency (SCID) is a group of rare genetic disorders characterized by profound defects in both T and B lymphocytes, leading to severe susceptibility to infections.
Observation:
- A six-month-old infant with a history of an elder sibling who died from progressive vaccinia due to SCID presented with varicella-zoster infection.
- Despite normal immunoglobulin levels and detectable, albeit low, varicella antibodies, the infant succumbed to disseminated varicella.
Findings:
- The infant exhibited subnormal T-lymphocyte counts but retained some T-cell function, including phytohaemagglutinin stimulation and migration inhibitory factor production.
- Necropsy revealed thymic dysplasia, severe combined immunodeficiency (SCID) with B lymphocytes, and foci of malignant lymphoma, consistent with WHO classification.
Implications:
- This case underscores the critical role of T-cell immunity in controlling viral infections, even in the presence of seemingly normal humoral immunity.
- The co-occurrence of SCID and malignant lymphoma in this infant highlights the complex interplay between immune dysfunction and oncogenesis.
- Early diagnosis and management of SCID are crucial to prevent life-threatening infections and associated complications like lymphoma.
Abstract:
A six-month-old male infant, whose elder brother had died of progressive vaccinia due to combined immunodeficiency, contracted varicella-zoster infection, and died of disseminated varicella ten days after onset of the disease. As with his elder brother, the blood levels of immunoglobulins were normal, and specific varicella antibodies appeared in his serum, although in low concentrations. His T-lymphocytes, although their number was subnormal, could be stimulated with phytohaemagglutinin, and production of migration inhibitory factor could also be demonstrated. The necropsy confirmed thymic dysplasia. In addition to histological changes, severe combined immunodeficiency and foci of malignant lymphoma were present. On this basis the disease was classified, according to the WHO recommendations, as severe combined immunodeficiency with B lymphocytes, complicated by malignant lymphoma.