Immunology Case Reports

All submissions of the EM system will be redirected to Online Manuscript Submission System. Authors are requested to submit articles directly to Online Manuscript Submission System of respective journal.
Reach Us +1 (202) 780-3397

Short Communication - Immunology Case Reports (2021) Volume 4, Issue 5

Immunodeficiency Manifestations of ACP5 Mutations

Spondyloenchondrodysplasia is a rare immuno-osseous dysplasia caused by biallelic mutations in the gene ACP5, which encodes tartrate resistant acid phosphatase (TRAP). I will present data pertaining to the recognized skeletal, neurological and immune phenotypes, most particularly the immune manifestations. In a recent analysis of 26 patients, 22 manifested clinical autoimmune diseases, most frequently autoimmune thrombocytopenia and systemic lupus erythematosus and further two demonstrated positive autoantibodies. In the majority of patients tested we detected up-regulated expression of interferon stimulated genes (ISGs), in keeping with the autoimmune phenotype and the likely immune-regulatory function of the deficient protein TRAP. Two mutation positive patients did not demonstrate an up-regulation of ISGs, including one patient with significant autoimmune disease controlled by immunosuppressive therapy perhaps demonstrating a useful treatment for the autoimmune manifestations. Of further note recurrent bacterial and viral infections were reported in five of 26 patients, raising the suggestion that immunodeficiency is a part of ACP5-associated disease 

Author(s): Tracy Briggs

Abstract PDF

Get the App