Inosine Triphosphatase Deficiency (ITPAD)

Inosine Triphosphatase Deficiency, also known as inosine triphosphate pyrophosphohydrolase deficiency, is related to severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency and combined immunodeficiency. An important gene associated with Inosine Triphosphatase Deficiency is ITPA (Inosine Triphosphatase). Affiliated tissues include kidney.