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Mutations in tetratricopeptide repeat domain 7A (TTC7A) and its mouse orthologue Ttc7 result in a multisystemic disease, mostly affecting epithelial barriers and the immune system. Despite successful hematopoietic stem cell transplantation, ongoing progression of gastrointestinal manifestations can be life-threatening in TTC7A-deficient patients. 


Understanding the etiology of primary immunological disease is necessary to define steps to be taken in designing therapeutic intervention. Knowing whether the genetic defect undermining the immune system is also causing a multi-systemic defects is essential in deciding whether hematopoietic stem cell transplant could be effective in curing the disease. We focus on pathophysiological characterization of cellular events to decipher mechanistic defects caused by disruptive genetic mutations in Tetratricopeptide repeat (TPR) domain 7 (TTC7A) with the aim to design targeted therapeutics.

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