Successful Artery Embolization in a Patient with Autoimmune Lymphoproliferative Syndrome Associated with Splenic Rupture
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Clinical Immunology"
DOI: 10.1007/s10875-020-00809-3
Abstract: To the Editor, Autoimmune lymphoproliferative syndrome (ALPS) is an autosomal dominant disorder of lymphocyte homeostasis wherein patients present with splenomegaly and lymphadenopathy [1]. ALPS results from defective apoptosis of T lymphocytes and accumulation of the… read more here.
Keywords: rupture; splenic rupture; lymphoproliferative syndrome; cytopenia ... See more keywords
A unique phenotype of longitudinal extensive transverse myelitis in autoimmune lymphoproliferative syndrome
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DOI: 10.1016/j.jneuroim.2022.577866
Abstract: A 49-year-old patient with a history of lymphoproliferation and autoimmune cytopenias presented with unexplained longitudinal extensive transverse myelitis. Flow cytometry on peripheral blood showed an elevated level of double negative T lymphocytes, a finding typical… read more here.
Keywords: lymphoproliferative syndrome; extensive transverse; transverse myelitis; longitudinal extensive ... See more keywords
Presentation and diagnosis of autoimmune lymphoproliferative syndrome (ALPS)
Sign Up to like & getrecommendations! Published in 2021 at "Expert Review of Clinical Immunology"
DOI: 10.1080/1744666x.2021.1978842
Abstract: ABSTRACT Introduction Autoimmune lymphoproliferative syndrome (ALPS) is a rare disorder of immune dysregulation characterized by derangements in first apoptosis signal-mediated apoptosis and elevations in CD3+TCRαβ+CD4−CD8− ‘double negative’ T cells. As our understanding of this pleomorphic… read more here.
Keywords: diagnosis; lymphoproliferative syndrome; presentation diagnosis; syndrome alps ... See more keywords
Use of Sirolimus (Rapamycin) for Treatment of Cytopenias and Lymphoproliferation Linked to Autoimmune Lymphoproliferative Syndrome (ALPS). Two Case Reports
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Pediatric Hematology/Oncology"
DOI: 10.1097/mph.0000000000000785
Abstract: Autoimmune lymphoproliferative syndrome (ALPS) is a disorder of lymphocyte apoptosis. Children present with chronic nonmalignant lymphadenopathy, hepatosplenomegaly, and autoimmune cytopenias. Recent advances show efficacy of treatment with immunosuppressive drugs. Sirolimus, an mammalian target of rapamycin… read more here.
Keywords: lymphoproliferation; syndrome alps; treatment; lymphoproliferative syndrome ... See more keywords
Neonatal Autoimmune Lymphoproliferative Syndrome (ALPS): A Case Report and A Brief Review.
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DOI: 10.1097/mph.0000000000001777
Abstract: The authors are reporting a case of autoimmune lymphoproliferative syndrome in a newborn who presented with massive hepatosplenomegaly, thrombocytopenia, and anemia at birth. Antenatal ultrasound revealed a fetus with hepatosplenomegaly. The infant was treated with… read more here.
Keywords: autoimmune lymphoproliferative; case report; lymphoproliferative syndrome;
Autoimmune lymphoproliferative syndrome: more than a FAScinating disease
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DOI: 10.12688/f1000research.11545.1
Abstract: Autoimmune lymphoproliferative syndrome (ALPS) is an inherited syndrome characterized by abnormal lymphocyte survival caused by failure of apoptotic mechanisms to maintain lymphocyte homeostasis. This failure leads to the clinical manifestations of non-infectious and non-malignant lymphadenopathy,… read more here.
Keywords: fascinating disease; lymphoproliferative syndrome; syndrome; autoimmune lymphoproliferative ... See more keywords
Non-malignant, non-infectious lymphoproliferation: challenges in the diagnosis and treatment of autoimmune lymphoproliferative syndrome
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DOI: 10.1556/650.2022.32353
Abstract: Összefoglaló. Az autoimmun lymphoproliferativ szindróma egy ritka, immundeficientiával járó genetikai betegség. Hátterében az extrinszik apoptotikus útvonal génjeinek örökletes vagy szerzett mutációi és a következményesen kialakuló, aktivált lymphocyták negatív szelekciójának a defektusa áll. Az autoimmun lymphoproliferativ… read more here.
Keywords: autoimmune lymphoproliferative; syndrome; lymphoproliferation; lymphoproliferative syndrome ... See more keywords
Pearls and pitfalls: Autoimmune lymphoproliferative syndrome and autoimmune lymphoproliferative syndrome-like disease.
Sign Up to like & getrecommendations! Published in 2017 at "Allergy and asthma proceedings"
DOI: 10.2500/aap.2017.38.4062
Abstract: A case of autoimmune lymphoproliferative syndrome (ALPS) was presented, followed by a discussion of the clinical characteristics, pathophysiology, diagnosis, and management of this disease. Clinical pearls and pitfalls are emphasized for the use of the… read more here.
Keywords: pearls pitfalls; pitfalls autoimmune; disease; lymphoproliferative syndrome ... See more keywords
EBV Negative Lymphoma and Autoimmune Lymphoproliferative Syndrome Like Phenotype Extend the Clinical Spectrum of Primary Immunodeficiency Caused by STK4 Deficiency
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DOI: 10.3389/fimmu.2018.02400
Abstract: Serine/threonine kinase 4 (STK4) deficiency is an autosomal recessive genetic condition that leads to primary immunodeficiency (PID) typically characterized by lymphopenia, recurrent infections and Epstein Barr Virus (EBV) induced lymphoproliferation and -lymphoma. State-of-the-art treatment regimens… read more here.
Keywords: lymphoma; primary immunodeficiency; lymphoproliferative syndrome; stk4 deficiency ... See more keywords
Case report: Effectiveness of sirolimus in treating partial DiGeorge Syndrome with Autoimmune Lymphoproliferative Syndrome (ALPS)-like features
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2022.1014249
Abstract: Background DiGeorge Syndrome (DGS) is a rare disease associated with 22q11.2 chromosomal microdeletion, also known as a velocardiofacial syndrome, based on the frequent involvements of the palate, facial, and heart problems. Hematologic autoimmunity is rare… read more here.
Keywords: alps like; digeorge syndrome; syndrome; lymphoproliferative syndrome ... See more keywords
Case report: Neonatal autoimmune lymphoproliferative syndrome with a novel pathogenic homozygous FAS variant effectively treated with sirolimus
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DOI: 10.3389/fped.2023.1150179
Abstract: Background Autoimmune lymphoproliferative syndrome (ALPS) is a rare disease characterized by defective FAS signaling, which results in chronic, nonmalignant lymphoproliferation and autoimmunity accompanied by increased numbers of “double-negative” T-cells (DNTs) (T-cell receptor αβ+ CD4−CD8−) and… read more here.
Keywords: report; variant; lymphoproliferative syndrome; case ... See more keywords