Bacille Calmette-Guerin (BCG) vaccine is administered to all newborns in countries where tuberculosis is still endemic. It is a live attenuated vaccine and considered quite safe in immunocompetent children. Disseminated BCG disease is the most serious complication seen only in individuals with underlying primary or secondary immunodeficiencies. We report a case of disseminated BCG disease in an...

Adenosine deaminase (ADA) deficiency causes severe combined immune-deficiency disease in humans. It is believed that the accumulation of the ADA substrate deoxyadenosine affects T cell development through interference with deoxynucleotide metabolism and/or S-adenosylmethionine-mediated methylation processes. In this study, we used a specific inhibitor of methylation, (Z)-5'-fluoro-4',5'-didehyd...

Mutations in the recombination activating gene 1 ( RAG1 ) and RAG2 humans are associated with a broad spectrum of clinical phenotypes, from severe combined immunodeficiency to immune dysregulation. Partial (hypomorphic) RAG deficiency (pRD) particular, frequently leads hyperinflammation autoimmunity, several underlying intrinsic extrinsic mechanisms causing break tolerance centrally peripherall...

IL-2 represents the dominant growth factor for T lymphocytes, and consequently plays a central role in the development of an immune response (reviewed in reference 1) . Additionally, this cytokine has been implicated in intrathymic T cell development (2, 3) . Severe combined immunodeficiency disease (SCID) t is a rare, heterogeneous, lethal congenital disorder characterized by severe impairment...

In high-burden countries, Mycobacterium bovis Bacillus Calmette-Guérin (BCG) vaccine is administered in newborn to prevent severe Mycobacterium tuberculosis infection. Because life-threatening disseminated BCG disease may occur in children with primary immunodeficiency, vaccination strategy against tuberculosis should be redefined in non-high-burden countries. We report the case of a patient wi...

Hypomorphic mutations of the RAG genes in humans are associated with a spectrum of clinical and immunologic presentations that range from T(-) B(-) severe combined immune deficiency (SCID) to Omenn syndrome. In most cases, residual V(D)J recombination activity allows for development of few T-cell clones, which expand in the periphery and infiltrate target organs, resulting in tissue damage. Inv...