ALLMedicine™ X-linked Lymphoproliferative Syndrome Center

Jul 7th, 2020 - X-linked inhibitor of apoptosis (XIAP) deficiency caused by mutations in the XIAP/BIRC4 gene is a rare inherited primary immunodeficiency also known as X-linked lymphoproliferative syndrome type 2 (XLP2). Hematopoietic stem cell transplantation (H...

Nov 23rd, 2019 - X-linked lymphoproliferative syndrome (XLP) is a rare primary immunodeficiency disease that can be divided into two types: SAP deficiency (XLP1) and XIAP deficiency (XLP2), caused by mutations in the SH2D1A and XIAP genes, respectively. Few cases ...

May 21st, 2019 - Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening disease associated with immune system hyperactivation and the appearance of serious systemic disturbances. The purpose of this study was an assessment of natural killer (NK) cell distu...

Apr 17th, 2019 - Pathogenic hemizygous variants in the SH2D1A gene cause X-linked lymphoproliferative (XLP) syndrome, a rare primary immunodeficiency usually associated with fatal Epstein-Barr virus infection. Disease onset is typically in early childhood, and the...

Jan 27th, 2019 - Practice Essentials X-linked lymphoproliferative (XLP) syndrome is a rare recessive genetic disorder that can be divided into two types based on its genetic cause and pattern of signs and symptoms. X-linked lymphoproliferative syndrome type 1 (XLP...