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Related Experiment Videos

Autoimmune lymphoproliferative syndrome.

João B Oliveira1, Thomas Fleisher

  • 1Department of Laboratory Medicine, Clinical Center, National Institutes of Health, DHHS, Bethesda, Maryland 20892, USA.

Current Opinion in Allergy and Clinical Immunology
|January 11, 2005
PubMed
Summary

Autoimmune lymphoproliferative syndrome (ALPS) involves defects in lymphocyte apoptosis, particularly the Fas pathway. Research is advancing understanding of its genetic basis, malignancy risk, and potential treatments.

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Area of Science:

  • Immunology
  • Genetics
  • Cell Biology

Background:

  • Autoimmune lymphoproliferative syndrome (ALPS) is a disorder affecting lymphocyte apoptosis.
  • It provides insights into Fas-mediated lymphocyte apoptosis.

Purpose of the Study:

  • To review current knowledge on ALPS diagnosis, management, and molecular underpinnings.
  • To highlight recent advances in understanding the genetic basis and clinical implications of ALPS.

Main Methods:

  • Review of existing literature on ALPS.
  • Analysis of genetic defects, genotype-phenotype correlations, and therapeutic strategies.

Main Results:

  • Genetic defects identified in Fas, Fas ligand, caspase-8, and caspase-10.

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  • Increased risk of lymphoreticular malignancy in patients with Fas death domain defects.
  • Preliminary evidence suggests sulphadoxine-pyrimethamine may be effective, with ongoing trials.

    • Conclusions:

    • Multiple molecules in the Fas apoptotic pathway can cause ALPS, with some genetic defects remaining unidentified.
    • Further research is needed to understand autoimmunity development and early malignancy detection in ALPS.
    • ALPS remains a key model for studying lymphocyte homeostasis and its role in human disease.