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Hemophagocytic Lymphohistiocytosis (HLH) Due to Fulminant Salmonella Sepsis in the Setting of IL12Rβ1 (Interleukin 12 Receptor Beta 1) Deficiency
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Hemophagocytic Lymphohistiocytosis (HLH) Due to Fulminant Salmonella Sepsis in the Setting of IL12Rβ1 (Interleukin 12 Receptor Beta 1) Deficiency
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Hemophagocytic Lymphohistiocytosis (HLH) Due to Fulminant Salmonella Sepsis in the Setting of IL12Rβ1 (Interleukin 12 Receptor Beta 1) Deficiency
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Journal Article
Hemophagocytic Lymphohistiocytosis (HLH) Due to Fulminant Salmonella Sepsis in the Setting of IL12Rβ1 (Interleukin 12 Receptor Beta 1) Deficiency
2023
Overview
Interleukin 12 receptor beta 1 (IL12Rβ1) deficiency is the most common cause of Mendelian susceptibility to mycobacterial disease (MSMD). MSMD usually predisposes the affected individuals to infections with weakly virulent mycobacteria such as Bacille Calmette-Guérin (BCG), environmental mycobacteria, non-typhoidal Salmonella, and certain other intracellular pathogens. MSMD usually presents with disseminated BCG infection after exposure to the BCG vaccine. Infections with non-typhoidal Salmonella are considered the second most common manifestation of MSMD; however, severe presentation with such organisms is unusual. In this report, we describe a case of a previously healthy infant who was found to have IL12Rβ1 deficiency after she presented with hemophagocytic lymphohistiocytosis (HLH) secondary to severe Salmonella enterica sepsis.This case report highlights the importance of considering the diagnosis of MSMD in any patient presenting with severe non-typhoidal Salmonella infections even in the absence of any exposure to low-virulent mycobacteria.
