Autoimmune lymphoproliferative syndrome (ALPS) caused by Fas (CD95) mutation mimicking sarcoidosis.
Autoimmune lymphoproliferative syndrome (ALPS) is an inherited disorder associated with defects in apoptosis, characterized by childhood onset of lymphadenopathy, splenomegaly, hyperimmunoglobulinemia, and autoimmune disease. ALPS is most frequently associated with a mutation in the cell death receptor Fas (CD95). Very rarely a mutation in caspase 10 is present. An increase of CD4/CD8 double negative T cells in the peripheral blood and lymph nodes is a feature characteristic of ALPS. Additionally, histiocytic proliferations resembling sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease) were reported recently in patients with ALPS. In the rare cases with a caspase 10 mutation an accumulation of dendritic cells in lymphoid organs was noted. We describe a different, sarcoidosislike, histiocytic infiltration of lymph nodes that persisted for years in a girl, that was initially supposed to suffer from sarcoidosis, but was eventually diagnosed as ALPS, associated with a missense mutation in the intracellular death domain of Fas. This sarcoidosislike histologic picture extends the spectrum of histiocytic lymph node alterations observed in ALPS and alerts of a potential diagnostic pitfall.
Müllauer
Leonhard
L
Institute of Pathology, Medical University Vienna, Vienna, Austria. leonhard.muellauer@meduniwien.ac.at
Emhofer
Josef
J
Wohlfart
Sabine
S
Pichlhöfer
Bettina
B
Stary
Susanne
S
Ebetsberger
Georg
G
Mannhalter
Christine
C
Chott
Andreas
A
D000293:Adolescent; D001327:Autoimmune Diseases / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D015415:Biomarkers / Q000378:metabolism; D003937:Diagnosis, Differential; D005260:Female; D015618:Histiocytosis, Sinus / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007124:Immunoenzyme Techniques; D008198:Lymph Nodes / Q000378:metabolism / Q000473:pathology / Q000601:surgery; D008232:Lymphoproliferative Disorders / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D020125:Mutation, Missense; D012507:Sarcoidosis / Q000175:diagnosis*; D017422:Sequence Analysis, DNA; D019014:fas Receptor / Q000235:genetics*
D015415:Biomarkers; C491901:FAS protein, human; D019014:fas Receptor