Response to steroid therapy in autism secondary to autoimmune lymphoproliferative syndrome.
We report a child who developed autoimmune lymphoproliferative syndrome (ALPS) secondary to a heterozygous dominant negative mutation in the death domain of the Fas receptor. Previously developmentally normal, he had symptoms of autism with rapid regression in developmental milestones coincident with the onset of lymphoproliferation and autoimmune hemolytic anemia. Low-dose steroid therapy induced early and complete remission in the ALPS phenotype. There was subjective improvement, followed by objective improvement in speech and developmental milestones. We propose that autism may be part of the autoimmune disease spectrum of ALPS in this child, and this case represents a novel manifestation and target organ involvement in this disease.
Shenoy
S
S
Divisions of Hematology-Oncology, Neurology, and Immunology-Rheumatology, Department of Pediatrics, Washington University School of Medicine and St Louis Children's Hospital, St Louis, MO 63110, USA.
Arnold
S
S
Chatila
T
T
D017209:Apoptosis; D001321:Autistic Disorder / Q000188:drug therapy* / Q000209:etiology*; D001327:Autoimmune Diseases / Q000150:complications* / Q000188:drug therapy / Q000235:genetics; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005938:Glucocorticoids / Q000627:therapeutic use*; D006801:Humans; D008232:Lymphoproliferative Disorders / Q000150:complications* / Q000188:drug therapy / Q000235:genetics; D008297:Male; D009154:Mutation; D011241:Prednisone / Q000627:therapeutic use*; D019014:fas Receptor / Q000235:genetics*
D005938:Glucocorticoids; D019014:fas Receptor; D011241:Prednisone