Hemophagocytic Lymphohistiocytosis (HLH) Due to Fulminant Salmonella Sepsis in the Setting of IL12Rβ1 (Interleukin 12 Receptor Beta 1) Deficiency

Interleukin 12 receptor beta 1 (IL12Rβ1) deficiency is the most common cause of Mendelian susceptibility to mycobacterial disease (MSMD). MSMD usually predisposes affected individuals infections with weakly virulent mycobacteria such as Bacille Calmette-Guérin (BCG), environmental mycobacteria, non-typhoidal Salmonella, and certain other intracellular pathogens. presents disseminated BCG infection after exposure vaccine. Infections Salmonella are considered second manifestation MSMD; however, severe presentation organisms unusual. In this report, we describe a case previously healthy infant who was found have IL12Rβ1 she presented hemophagocytic lymphohistiocytosis (HLH) secondary enterica sepsis. This report highlights importance considering diagnosis in any patient presenting even absence low-virulent mycobacteria.