FADD-related immunodeficiency

FADD-related immunodeficiency is a rare genetic immune disorder that was initially reported in a single consanguineous Pakistani family. People with this condition experience severe bacterial and viral infections, and they may also suffer from recurrent liver problems. These liver issues include inflammation around the portal areas and fibrosis, which may lead to long-term liver changes. In addition to the infections and liver complications, individuals can have recurrent febrile episodes that sometimes last several days. During these episodes, some individuals experience encephalopathy along with difficult-to-control seizures. Variable cardiac malformations have also been reported. Although there were some laboratory features similar to autoimmune lymphoproliferative syndrome (ALPS), the clinical picture did not match ALPS.

People with FADD-related immunodeficiency often experience severe bacterial and viral infections. They may have recurrent episodes of liver inflammation and fibrosis. In addition, there can be prolonged febrile episodes, sometimes with encephalopathy and seizures. Some individuals may also have congenital heart malformations.

This condition is caused by a mutation in the FADD gene. A homozygous missense mutation on chromosome 11q13.3 has been identified in the reported family. The condition follows an autosomal recessive pattern of inheritance, meaning that two copies of the mutation are needed for the condition to develop.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition. Additional studies are needed to better understand the genetic mutation in FADD and its full impact on immune function and other body systems.