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Autoimmune lymphoproliferative syndrome with recurrent viral infections
A rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses.
ORPHA:275517Classification level: Disorder
Prevalence of this disorder is not known. It is extremely rare with four individuals in one family identified to date.
Development is reported to be normal in affected patients. Clinical signs include lymphadenopathy and splenomegaly, and development of recurrent sinopulmonary and significant mucocutaneous infections with the Herpes zoster and Herpes simplex viruses. Patients are also poorly responsive to immunization and seem to benefit from IVIG supplementation.
The disorder is caused by germline homozygous mutations in the CASP8 gene (2q33-q34) involved in the execution phase of cell apoptosis. Carriers with a normal copy of the gene are asymptomatic.
Biologically, autoimmune lymphoproliferative syndrome with recurrent viral infections is characterized by slightly elevated double-negative T cells (DNTs), and defective Fas-mediated apoptosis of B, T, and NK lymphocytes.
The pattern of inheritance appears to be autosomal recessive.