This website provides information on patients with mutations in the PEPD gene, including clinical data, molecular data, management, and research options.
Prolidase Deficiency is caused by mutations in the PEPD gene. It is a multisystem disorder characterized by skin lesions, recurrent infections, dysmorphic facial features, variable intellectual disability, and hepatomegaly with elevated liver enzymes and splenomegaly. Anemia, thrombocytopenia, hypergammaglobulinemia, and hypocomplementemia are common. An association between Systemic Lupus Erythematosus (SLE) and Prolidase Deficiency has been described. Not all individuals with a mutation in the PEPD 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 PEPD gene.
Heng Wang, MD, PhD, DDC Clinic Center for Special Needs Children, Middlefield, Ohio, United States of America, Wang@DDCClinic.org
Baozhong Xin, PhD, DDC Clinic Molecular Diagnostics Laboratory, Middlefield, Ohio, United States of America, BXin@DDCClinic.org
Sarah Ossler, MS, CGC, LGC, DDC Clinic Molecular Diagnostics Laboratory, Middlefield, Ohio, United States of America, Sarah@DDCclinic.org