We describe a patient who developed multiple granulomatous skin lesions after Bacille de Calmette et Guérin (BCG) vaccination without significant effect by topical corticosteroid, followed by painless cystic tumors on the bilateral knees and hands and inflammatory changes on ophthalmologic examination. A functional mutation in 2 was detected by a genetic analysis, and he was diagnosed as sporadic Blau syndrome. Since 2 acts as a sensor for the BCG component, it is possible that BCG vaccination may trigger granuloma formation in Blau syndrome patients with such genetic background.
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http://dx.doi.org/10.3390/children8020117 | DOI Listing |
Front Immunol
November 2024
Division of Rheumatology, Allergy and Immunology, Stony Brook University Renaissance School of Medicine, Stony Brook, NY, United States.
Rheumatol Immunol Res
September 2024
Department of Rheumatology and Immunology, The First Affiliated Hospital, and College of Clinical Medicine of Henan University of Science and Technology, Luoyang, Henan Province, China.
Front Immunol
October 2024
Division of Rheumatology, Allergy and Immunology, Stony Brook University Renaissance School of Medicine, Stony Brook, NY, United States.
ChemMedChem
January 2025
Department, Normandie Univ, UNICAEN, CERMN, bd Becquerel, F-14000, Caen, Cedex, France.
Microorganisms
September 2024
Department of Biomedical Science, University of Sassari, 07100 Sassari, Italy.
Human endogenous retroviruses (HERVs) are remnants of ancient retroviral infections that, over millions of years, became integrated into the human genome. While normally inactive, environmental stimuli such as infections have contributed to the transcriptional reactivation of HERV-promoting pathological conditions, including the development of autoimmunity, neurodegenerative disease and cancer. What infections trigger HERV activation? subspecies (MAP) is a pluripotent driver of human disease.
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