Abstract
Background: Autoimmune lymphoproliferative syndrome (ALPS) is a rare disorder of the blood, estimated at around 500 cases worldwide. It is characterized by a dysregulation of T-cells in the immune system, and is caused by a defect in the process that mediates leukocyte apoptosis. This may result in an increased risk of lymphoma and autoimmune diseases. Case: The author reports a case of an 11-year-old male who had been followed up since three years of age for recurrent cytopenias, occurring with intermittent breakouts of purpuric rash, nosebleeds, and prolonged infections. Conclusion: A probable diagnosis was made through criteria based on the First International ALPS workshop of 2009. This includes the presence of circulating double-negative T cells, considered the laboratory marker unique for ALPS. The mainstay of treatment was prednisone, given at doses varying in proportion to the severity of immunocytopenia. osis.
Highlights
Autoimmune lymphoproliferative syndrome (ALPS) is an abnormality of lymphocyte homeostasis, caused by a disruption in the apoptosis pathway mediated by the FAS gene
A male predominance has been confirmed by the French ALPS cohort and the National Institutes of Health (NIH) cohort, with the ratio of male to female patients being 2.2 and 1.6 respectively.[1,4]
Required criteria include the presence of lymphadenopathy and/or splenomegaly, as well as elevated circulating alpha/beta double-negative T (DNT) cells detected using flow cytometric immunophenotyping, considered the hallmark of the disease
Summary
Autoimmune lymphoproliferative syndrome (ALPS) is an abnormality of lymphocyte homeostasis, caused by a disruption in the apoptosis pathway mediated by the FAS gene. Clinical sequelae are most commonly defined by a lymphoproliferative pattern in early disease onset age groups, and an autoimmune pattern in later disease onset.[1]. The exact incidence and prevalence of ALPS are unknown. It is estimated that the number exceeds 500 worldwide, but due to difficulty in diagnosis and features that overlap with other diseases, Evans’ syndrome, this has not been reliably confirmed.[2,3] ALPS has been reported among a spectrum of different races. A male predominance has been confirmed by the French ALPS cohort and the National Institutes of Health (NIH) cohort, with the ratio of male to female patients being 2.2 and 1.6 respectively.[1,4]
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
