Autoimmune lymphoproliferative syndrome (ALPS) is characterised by massive enlargement of the lymphoid organs, autoimmune cytopenias and a predisposition to develop lymphoid malignancies. The basic defect is a disturbance of the lymphocyte apoptosis, and a high number of circulating TCRab CD3+CD4-CD8- T-cells (double-negative T cells (DNT cells)). We describe a case of a 41-year-old man with fe...

In mice, the two distinct autosomal recessive genes lpr and gid can induce a syndrome characterized by autoantibody formation and the progressive accumulation of an unusual CD4-CD8T cell population in peripheral lymphoid tissue. This phenotype does not precisely mirror any human disease. In this report we describe two patients with a progressive lymphoproliferative disorder associated with auto...

Autoimmune lymphoproliferative syndrome (ALPS) type Ia is caused by inherited defects in apoptosis and is characterized by nonmalignant lymphoaccumulation, autoimmunity, and increased alpha/beta(+) double-negative T cells (alpha/beta(+)-DNT cells). This study reports immunophenotypic findings in 166 members of 31 families with ALPS type Ia, associated with genetic mutations in the TNFRSF6 gene ...

Autoimmune lymphoproliferative syndrome (ALPS) represents a failure of apoptotic mechanisms to maintain lymphocyte homeostasis, permitting accumulation of lymphoid mass and persistence of autoreactive cells that often manifest in childhood with chronic nonmalignant lymphadenopathy, hepatosplenomegaly, and recurring multilineage cytopenias. Cytopenias in these patients can be the result of splen...

lymphoproliferative syndrome Aleš Janda, Aff1 Aff2 Corresponding Affiliation: Aff1 Klaus Schwarz, Aff3 Aff4 Mirjam van der Burg, Aff5 Werner Vach, Aff6 Hanna Ijspeert, Aff5 Myriam Ricarda Lorenz, Aff3 Magdeldin Elgizouli, Aff1 Kathrin Pieper, Aff1 Paul Fisch, Aff7 Joachim Hagel, Aff1 Raquel Lorenzetti, Aff1 Maximilian Seidl, Aff1 Aff7 Joachim Roesler, Aff8 Fabian Hauck, Aff9 Elisabetta Traggiai...

Fas is a transmembrane receptor involved in the maintenance of tolerance and immune homeostasis. In murine models, it has been shown to be essential for deletion of autoreactive B cells in the germinal center. The role of Fas in human B-cell selection and in development of autoimmunity in patients carrying FAS mutations is unclear. We analyzed patients with either a somatic FAS mutation or a ge...

In mice, the two distinct autosomal recessive genes lpr and gld can induce a syndrome characterized by autoantibody formation and the progressive accumulation of an unusual CD4-CD8- T cell population in peripheral lymphoid tissue. This phenotype does not precisely mirror any human disease. In this report we describe two patients with a progressive lymphoproliferative disorder associated with au...

The number of effector T cells is controlled by proliferation and programmed cell death. Loss of these controls on self-destructive effector T cells may precipitate autoimmunity. Here, we show that two members of the growth arrest and DNA damage-inducible (Gadd45) family, beta and gamma, are critical in the development of pathogenic effector T cells. CD4(+) T cells lacking Gadd45beta can rapidl...