Diversity of XMEN Disease: Description of 2 Novel Variants and Analysis of the Lymphocyte Phenotype.

摘要: Variants in MAGT1 have been identified as the cause of an immune deficiency termed X-linked immunodeficiency with magnesium defect, Epstein-Barr virus (EBV) infection and neoplasia (XMEN) disease. Here, we describe 2 cases XMEN disease due to novel mutations MAGT1, one whom presented classical features another who a phenotype including probable CNS vasculitis, HHV-8 negative multicentric Castelman severe molluscum contagiosum, thus highlighting clinical diversity that may be seen this condition. Peripheral blood immunophenotyping these patients, together additional 4 revealed reduced NKG2D expression, impaired CD28 expression on CD8+ T cells, CD4+ cell lymphopenia, inverted CD4:CD8 ratio decreased memory B cells. In addition, showed for first time alterations compartment, CD56hi NK MAIT iNKT well compromised differentiation naive cells into IL-21-producing Tfh-type vitro. Both patients were treated supplemental limited benefit. However, patient has undergone allogeneic haematopoietic stem transplant, full donor chimerism reconstitution. These results expand our understanding immunological disease, adding current literature, which further discuss here.