X-linked Lymphoproliferative Disease Type 1 in a Patient With the p.Gly93Asp SH2D1A Gene Mutation and Hemophagocytic Lymphohistiocytosis

Abstract

Hemophagocytic lymphohistiocytosis is characterized by uncontrolled activation of the immune system that leads to systemic hyperinflammation. Lymphoproliferative syndrome linked to the X chromosome is a hereditary immunodeficiency characterized by an inability to mount an adequate immune response to an Epstein-Barr virus infection. Hemophagocytic lymphohistiocytosis is one of the main clinical features of X-linked lymphoproliferative syndrome. We report the case of a patient who presented with primary hemophagocytic lymphohistiocytosis associated with Epstein-Barr virus infection without a familial history of immunodeficiency. A mutation in the SH2D1A gene was identified, which confirmed the diagnosis of type 1 X-linked lymphoproliferative syndrome.

HLH as an additional warning sign of inborn errors of immunity beyond familial-HLH in children: a systematic review

“…Nevertheless, Central Nervous System (CNS) involvement was confirmed by lumbar puncture or brain Magnetic Resonance Imaging (MRI) in 5/21 patients (24%) and 7/21 patients (33%), respectively. Overall, liver involvement, inclusively considering hepatomegaly and transaminases above 100 U/L, was reported in 97/178 patients (54%), while jaundice and liver failure were reported in 5/178 (3%) ( 30 , 38 , 63 , 70 , 80 ) and 3/178 patients (2%) ( 45 , 61 , 80 ), respectively.…”