This website provides information on patients with mutations in the TPP2 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the TPP2 gene is a multisystem disorder characterized by progressive combined immune-deficiency, autoimmunity, developmental delay and intellectual deficiency.
Not all individuals with biallelic pathogenic variants in TPP2 gene have these features.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the TPP2 gene.

Isis Atallah, M.D. PhD., Lausanne University Hospital, Lausanne, Switzerland, maria-isis.atallah-gonzalez@chuv.ch

Andrea Superti-Furga, Prof., Lausanne University Hospital and Lausanne University, Lausanne, Switzerland, andrea.superti-furga@chuv.ch