Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome (WAS) is a rare, X-linked recessive primary immunodeficiency disorder characterized by a clinical triad of eczema, thrombocytopenia with small platelets, and recurrent infections…
Congenital athymia
congenital athymia is a rare and life-threatening immunodeficiency disorder characterized by the absence of a functional thymus at birth. The thymus is essential for the…
Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS)
Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS) is a rare primary immunodeficiency caused by genetic mutations in the PIK3CD or PIK3R1 genes, which regulate the phosphoinositide…