Table of Contents
Definition / general | Case reports | Microscopic (histologic) description | Positive stains | Negative stains | Molecular / cytogenetics description | Differential diagnosisCite this page: DePond W. Autoimmune lymphoproliferative syndrome. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/lymphnodesALPS.html. Accessed December 18th, 2024.
Definition / general
- Also called Canale-Smith syndrome
- First named in 1995 (Cell 1995;81:935)
- Inherited disorder due to defects in Fas/CD95/Apo-1 mediated apoptosis (OMIM 601859: Autoimmune Lymphoproliferative Syndrome [Accessed 28 June 2018])
- Childhood onset of lymphadenopathy, hepatosplenomegaly, hypergammaglobulinemia and autoimmunity; also cytopenias and increased risk of lymphoma (Hematology 2006;11:15)
- 40% have histologic features of sinus histiocytosis with massive lymphadenopathy (Am J Surg Pathol 2005;29:903)
- Type I: functional defects of FAS gene
- Type II: functional FAS deficiency but no FAS gene mutations
Case reports
- 6 month old girl with cervical lymphadenopathy, hepatosplenomegaly and gamma/delta+ T cell blasts (Am J Surg Pathol 2003;27:546)
- 4 year old girl with type II syndrome and clonal immunoblasts but no evidence of lymphoma (Am J Surg Pathol 1999;23:829)
- 11 year old girl with case due to FasL mutation (Blood 2006;108:1306)
Microscopic (histologic) description
- Paracortical hyperplasia, expanded interfollicular areas; polyclonal plasmacytosis (Am J Pathol 1998;153:1541)
- Frequent mitotic figures
- Often florid follicular hyperplasia with focal progressive transformation of germinal centers
- Occasional follicular involution
Molecular / cytogenetics description
- Mutation in death domain of FAS gene
Differential diagnosis
