Autoimmune lymphoproliferative syndrome

@article{Sneller2003AutoimmuneLS,
  title={Autoimmune lymphoproliferative syndrome},
  author={Michael C. Sneller and Janet K. Dale and Stephen E. Straus},
  journal={Current Opinion in Rheumatology},
  year={2003},
  volume={15},
  pages={417-421}
}
Autoimmune lymphoproliferative syndrome arises early in childhood in people who inherit mutations in genes that mediate lymphocyte apoptosis, or programed cell death. In the immune system, antigen-induced lymphocyte apoptosis maintains immune homeostasis by limiting lymphocyte accumulation and minimizing reactions against self-antigens. In autoimmune lymphoproliferative syndrome, defective lymphocyte apoptosis manifests as chronic, nonmalignant adenopathy and splenomegaly; the expansion of an… 

Autoimmune lymphoproliferative syndrome

TLDR
Defects in multiple molecules within the Fas apoptotic pathway may result in autoimmune lymphoproliferative syndrome and, despite recent advances, a number of patients remain with unidentified genetic defects.

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The best approaches to diagnosis, follow-up, and management of ALPS, its associated cytopenias, and other complications resulting from infiltrative lymphoproliferation and autoimmunity are presented.

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TLDR
Autoimmune lymphoproliferative syndrome should be considered in differential diagnosis of any patient with unexplained Coomb's positive cytopenias, hypergammaglobulinemia, generalized lymphadenopathy and splenomegaly, the authors report.

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TLDR
Testing for ALPS should be considered in patients with unexplained lymphadenopathy, cytopenias, and hepatosplenomegaly, as well as the molecular basis for the disease and new advances in treatment.

How I treat How I treat autoimmune lymphoproliferative syndrome

TLDR
Some patients with FAS mutations affecting the intracellular portion of the FAS protein also have an increased risk of B-cell lymphoma, and the best approaches to diagnosis, followup, and management of ALPS, its associated cytopenias, and other complications resulting from infiltrative lymphoproliferation and autoimmunity are presented.

[Autoimmune lymphoproliferative syndrome].

TLDR
Both children are treated with mycophenolate mofetil with good response and ALPS is an underestimated entity that must be considered in non malign lymphoproliferation, autoimmunity and expansion of an unusual population of a/ßCD3+CD4-CD8-(double-negative T cells>1%).
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References

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Autoimmune lymphoproliferative syndrome

TLDR
Defects in multiple molecules within the Fas apoptotic pathway may result in autoimmune lymphoproliferative syndrome and, despite recent advances, a number of patients remain with unidentified genetic defects.

Clincal, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis.

TLDR
Evidence is provided that apoptosis of activated lymphocytes is an important mechanism for maintaining immunologic homeostasis and self-tolerance in humans and in vitro abnormalities of lymphocyte apoptosis are associated with abnormal lymphoproliferation and autoimmunity.

The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis.

TLDR
Investigation of 10 patients and their relatives with Fas mutations revealed that all had defective lymphocyte apoptosis and most had other features of ALPS, implicate a role for Fas-mediated apoptosis in preventing B-cell and T-cell lymphomas.

An Inherited Disorder of Lymphocyte Apoptosis: The Autoimmune Lymphoproliferative Syndrome

TLDR
The autoimmune lymphoproliferative syndrome (ALPS) represents a failure of apoptotic mechanisms that help maintain normal lymphocyte homeostasis, with a consequent accumulation of lymphoid mass and persistence of autoreactive cells.

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Inherited mutations of the Fas/Apo1/CD95 gene, a cell-surface receptor involved in cell death signaling and in the control of self-reactivity, characterize the recently identified autoimmune

Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance.

TLDR
The location of mutations within APT1 strongly influences the development and the severity of ALPS, with dominant inhibition of apoptosis much more pronounced in mutants affecting the intracellular, versus extracellular, portion of the Fas receptor.

The autoimmune lymphoproliferative syndrome (Canale–Smith) in adulthood

The autoimmune lymphoproliferative syndrome (ALPS) or Canale–Smith syndrome is a recently described clinical entity consisting of chronic, non-malignant lymphadenopathy and hepatosplenomegaly

Autoimmune lymphoproliferative syndrome: report of two cases and review of the literature

TLDR
The ratio of CD4–CD8– T cells, immunoglobulin levels and the histopathologic features of lymph nodes should be rapidly determined in patients with ALPS in order to establish an early diagnosis and treatment.

Correction of autoimmune lymphoproliferative syndrome by bone marrow transplantation

TLDR
This is the first reported case of ALPS in which BMT was successfully attempted for correction of a Fas deficiency, and the patient underwent BMT from an unrelated donor.
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