Bacillus Calmette-Guerin (BCG)-associated hemophagocytic lymphohistiocytosis in the setting of IFN-γR1 deficiency: A diagnostic dilemma.

ABSTRACT: Hemophagocytic lymphohistiocytosis (HLH) disease is a severe immune dysregulation caused by mutations in genes required for lymphocyte cytotoxicity function. However, HLH-like syndrome may develop secondary to infections, malignancy, and autoimmunity. Primary immunodeficiencies (PIDs) could predispose to HLH syndrome after uncontrolled infections. Mendelian susceptibility to mycobacterial disease (MSMD) is a PID characterized by a predisposition to clinical disease caused by weakly virulent mycobacteria, such as bacillus Calmette-Guérin (BCG). Inborn errors of interferon-γ immunity caused by mutations in 16 genes, underly MSMD development. Here, we report a case of fatal interferon-γ receptor 1 deficiency with disseminated BCG infection, which was initially diagnosed with HLH disease. We a

SUBMITTER: Razaghian A 

PROVIDER: S-EPMC9175834 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature