Causes and consequences of the autoimmune lymphoproliferative syndrome

  title={Causes and consequences of the autoimmune lymphoproliferative syndrome},
  author={V Koneti Rao and Stephen E. Straus},
  pages={15 - 23}
Abstract Autoimmune lymphoproliferative syndrome (ALPS) is the first autoimmune hematological disease whose genetic basis has been defined. It is a disorder of apoptosis in which the inability of lymphocytes to die leads to lymphadenopathy, hypersplenism, and autoimmune cytopenias of childhood onset. More than 200 ALPS patients have been studied over the last 15 years and followed by our colleagues and ourselves at the Clinical Center of the National Institutes of Health. Based upon this… 

Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations.

Avoiding splenectomy while controlling hypersplenism by using corticosteroid-sparing treatments improves the outcome in ALPS-FAS patients, and the major causes of morbidity and mortality in these patients are the overwhelming postsplenectomy sepsis and development of lymphoma.

Autoimmune Lymphoproliferative Syndrome

  • M. Briones
  • Medicine, Biology
    Transfusion Medicine and Hemostasis
  • 2019

How I treat How I treat autoimmune lymphoproliferative syndrome

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.

How I treat autoimmune lymphoproliferative syndrome.

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.

Updated Understanding of Autoimmune Lymphoproliferative Syndrome (ALPS)

The new genetic and biological insights have improved the understanding of ALPS and a number of targeted therapeutic strategies such as mycophenolate mofetil, sirolimus, and pentostatin have been successfully applied in ALPS patients with promising treatment efficacy.

Identifying autoimmune lymphoproliferative syndrome in children with Evans syndrome: a multi-institutional study.

It is suggested that children with ES should be screened for ALPS with DNTs, and Severity of cytopenias and elevated immunoglobulin levels also predicted ALPS.

Autoimmune lymphoproliferative syndrome.

The initial focus on in vitro Fas-mediated lymphocyte apoptosis in ALPS was prompted by published studies defining the underlying defects in the lpr and gld murine models of autoimmunity.

Autoimmune Lymphoproliferative Syndrome

Serologic testing is critical in the evaluation of individuals with ALPS, which is characterized by massive lymphoadenopathy, splenomegaly, autoimmunity including episodes of immune hemolityc anemia, thrombocytopenia, and neutropenia.



An Inherited Disorder of Lymphocyte Apoptosis: The Autoimmune Lymphoproliferative Syndrome

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.

Autoimmune lymphoproliferative syndrome

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.

Unmasking Evans syndrome: T-cell phenotype and apoptotic response reveal autoimmune lymphoproliferative syndrome (ALPS).

The data suggest that analysis of DNTs may be a sensitive first-line screening test, serving as a marker of patients who should undergo definitive testing for ALPS, a novel finding with important therapeutic implications.

Autoimmune Lymphoproliferative Syndrome Type III: An Indefinite Disorder

ALPS type III could be more common than believed until now, and evidence is provided for this hypothesis.

Development of Lymphoma in Autoimmune Lymphoproliferative Syndrome (ALPS) and its Relationship to Fas Gene Mutations

In Hodgkin lymphomas, Fas mutations can be demonstrated in Reed-Sternberg cells in 10 – 20% of the patients, implicate a role for Fas-mediated apoptosis in preventing lymphomas.

Identification of new Fas mutations in a patient with autoimmune lymphoproliferative syndrome (ALPS) and eosinophilia.

It is speculated that the mutation in the death domain prevents the interaction of Fas with intracellular mediators of apoptosis and is responsible for the autoimmune manifestations of ALPS and the abnormal lymphocytosis and eosinophilia in this patient.

Autoimmune lymphoproliferative syndrome, a disorder of apoptosis.

Most patients with ALPS have mutations in a gene now named TNFRSF6 (tumor necrosis factor receptor gene superfamily member 6), which encodes the cell surface receptor for the major apoptosis pathway in mature lymphocytes.

Reversion of autoimmune lymphoproliferative syndrome with an antimalarial drug: preliminary results of a clinical cohort study and molecular observations

It is found that the drug induced apoptosis in activated lymphocytes through activation of the mitochondrial apoptotic pathway in ALPS patients treated with the antimalarial drug Fansidar.

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

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.

Pathological findings in human autoimmune lymphoproliferative syndrome.