Mendelian susceptibility to mycobacterial disease masquerading as lymphoproliferative disorder

Abstract

Mendelian susceptibility to mycobacterial diseases (MSMDs) is a rare disorder where histiocytes lack the interferon-gamma receptor and are not activated by the cytokine secreted by T-lymphocyte. The lymph node biopsy in these cases lack granuloma but show sheets of histiocytes with effacement of architecture, which may mimic a lymphoproliferative disorder. The predominance of a histiocytic population in immunodeficient children should alert the pathologist, and ancillary techniques such as immunohistochemistry and flow cytometry should be used to establish the correct diagnosis. Here, we report a case of MSMD which mimicked as a lymphoproliferative disorder.

Keywords

• granuloma
• interferon-gamma
• lymphoproliferative disorder
• mendelian susceptibility to mycobacterial diseases