First Brazilian Case Report of Unrelated Patients with Identical ISG15 Mutation - Napoleao, Sarah Maria da Silva; Salgado, Ranieri Coelho; Ferreira, Janaira Fernandes Severo; de Barros Dorna, Mayra; de Moura, Thais Costa Lima; França, Tábata Takahashi; Barreiros, Lucila Akune; Gomes, Lillian Nunes; Condino-Neto, Antonio (Journal of clinical immunology, 2025)
Keywords: BCG vaccine; Biomedical and Life Sciences; Biomedicine; Brazil; Candidiasis; case studies; Child; Child, Preschool; computer simulation; Cytokines - metabolism; diagnostic techniques; Female; gene expression regulation; genes; Genetic analysis; Genetic counseling; Genetic Predisposition to Disease; homozygosity; Humans; Immunology; Infant; Infections; Infectious Diseases; Interferon-gamma - genetics; interferons; Interleukin 12; Internal Medicine; Male; Medical Microbiology; mutants; Mutation; Mutation - genetics; Mycobacterium Infections - diagnosis; Mycobacterium Infections - etiology; Mycobacterium Infections - genetics; Patients; Pedigree; Phenotype; Phenotypes; Point mutation; Protein structure; Proteins; Public health; Skin diseases; Skin lesions; Transcriptomes; transcriptomics; Ubiquitins - genetics; Virulence; γ-Interferon; Brazil; primary immunodeficiency; MSMD; inborn errors of immunity; mycobacterial infections; IL-12/IFN-γ axis; ISG15 deficiency