Thelansis

 Activated PI3K delta Syndrome (APDS), also referred to as PASLI disease, is a combined immunodeficiency that arises 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). This condition results in the hyperactivation of the PI3K/AKT/mTOR/S6K signaling pathways in immune cells. Patients with APDS can experience immune-deficient and immune-dysregulation features such as recurrent respiratory tract infections, bronchiectasis, herpesvirus infections, autoimmunity, non-neoplastic lymphoproliferation, and lymphoma, as well as neurodevelopmental delay and growth retardation. APDS1 and APDS2 are terms used to distinguish between APDS due to gain-of-function mutations in the genes encoding p110δ (PIK3CD) and p85α (PIK3R1), respectively. Unfortunately, there is currently no curative therapy available for APDS. However, certain treatment regimens can be implemented for APD...

 Activated PI3K delta 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 well 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 cel...