Article

Autoimmune lymphoproliferative syndrome (ALPS) caused by Fas (CD95) mutation mimicking sarcoidosis.

Institute of Pathology, Medical University Vienna, Vienna, Austria.
American Journal of Surgical Pathology (impact factor: 4.35). 03/2008; 32(2):329-34. DOI:10.1097/PAS.0b013e3181484f6d pp.329-34
Source: PubMed

ABSTRACT 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.

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    Article: CD3+CD4-CD8- (double negative) T cells: saviours or villains of the immune response?
    Fulvio D'Acquisto, Tessa Crompton
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    ABSTRACT: Recent studies have shown that T cells are not just the latecomers in inflammation but might also play a key role in the early phase of this response. In this context, a number of T cell subsets including NKT cells, mucosal-associated invariant T cells and γ/δ T cells have been shown, together with classical innate immune cells, to contribute significantly to the development and establishment of acute and chronic inflammatory diseases. In this commentary we will focus our attention on a somewhat neglected class of T cells called CD3(+)CD4(-)CD8(-) double negative T cells and on their role in inflammation and autoimmunity. We will summarize the most recent views on their origin at the thymic and peripheral levels as well as their tissue localization in immune and non-lymphoid organs. We will then outline their potential pathogenic role in autoimmunity as well as their homeostatic role in suppressing excessive immune responses deleterious to the host. Finally, we will discuss the potential therapeutic benefits or disadvantages of targeting CD3(+)CD4(-)CD8(-) double negative T cells for the treatment of autoimmune disease. We hope that this overview will shed some light on the function of these immune cells and attract the interest of investigators aiming at the design of novel therapeutic approaches for the treatment of autoimmune and inflammatory conditions.
    Biochemical pharmacology 05/2011; 82(4):333-40. · 4.25 Impact Factor
Data provided are for informational purposes only. Although carefully collected, accuracy cannot be guaranteed. The impact factor represents a rough estimation of the journal's impact factor and does not reflect the actual current impact factor. Publisher conditions are provided by RoMEO. Differing provisions from the publisher's actual policy or licence agreement may be applicable.

Keywords

Autoimmune lymphoproliferative syndrome
 
caspase 10
 
caspase 10 mutation
 
CD4/CD8 double negative T cells
 
cell death receptor Fas
 
dendritic cells
 
different
 
histiocytic infiltration
 
histiocytic lymph node alterations
 
histiocytic proliferations
 
intracellular death domain
 
lymph nodes
 
lymphoid organs
 
massive lymphadenopathy
 
peripheral blood
 
potential diagnostic pitfall
 
rare cases
 
Rosai-Dorfman disease
 
sarcoidosislike histologic picture
 
sinus histiocytosis
 

Leonhard Müllauer