AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 38 genes

The Autoimmune Lymphoproliferative Syndrome (ALPS) panel analyzes 38 genes and is designed for the molecular study of a group of inherited immunoregulatory disorders characterized by immune system dysregulation, leading to chronic lymphoproliferation, multi-organ autoimmunity (primarily autoimmune cytopenias), and an increased risk of lymphoma. These syndromes can result from mutations in genes involved in the Fas/FasL apoptotic pathway (FAS, FASLG, CASP8, CASP10), in costimulatory and immune signaling pathways (CTLA4, LRBA, STAT3, TNFRSF9), or in lymphocyte and cytotoxic regulatory mechanisms (PRF1, UNC13D, STX11, XIAP). The panel also includes genes related to combined adaptive immune deficiencies and PI3K signaling abnormalities (PIK3CD, PIK3R1), which share similar clinical manifestations. Analysis of these genes allows for molecular confirmation of ALPS and related lymphoproliferative syndromes, differentiation between the various genetic forms, and guidance of clinical management through targeted immunomodulatory therapies. It also provides valuable information for family counseling and risk assessment of hematological malignancies. Genes analyzed: FAS, FASLG, CASP10, CASP8, CTLA4, LRBA, STAT3, PIK3CD, PIK3R1, PRF1, XIAP, and others. You can consult the complete list of analyzed genes by contacting Genotica.