Thelansis

  Activated PI3Kdelta Syndrome (APDS), also known as PASLI disease, is a combined immunodeficiency resulting from dominant, gain-of-function mutations in the genes encoding p110δ (PIK3CD) and p85α (PIK3R1), the catalytic and regulatory subunits of phosphoinositide 3-kinase δ (PI3Kδ). These mutations result in the hyperactivation of the PI3K/AKT/mTOR/S6K signally pathways in immune cells. Patients with APDS may develop immune-deficient and immune-dysregulation features, including recurrent respiratory tract infections, bronchiectasis, herpesvirus infections, autoimmunity, non-neoplastic lymphoproliferation, and lymphoma as neurodevelopment delay and growth retardation. APDS due to gain-of-function mutations in the genes encoding p110δ (PIK3CD) and p85α (PIK3R1) are termed APDS1 and APDS2, respectively. There is no curative therapy for APDS. However, Treatment regimes for APDS patients include antibiotic prophylaxis and immunoglobulin replacement therapy. Hematopoietic stem cell tran...