Inborn errors of immunity presenting with lymphoproliferation: lessons from a case series
Sign Up to like & getrecommendations! Published in 2025 at "Annals of Hematology"
DOI: 10.1007/s00277-025-06456-1
Abstract: Lymphoproliferation can represent the first or leading disease sign in different inborn errors of immunity (IEI), which include autoimmune lymphoproliferative syndrome (ALPS), common variable immunodeficiency (CVID), combined immunodeficiencies, activated phosphoinositide 3-kinase δ syndrome (APDS), Epstein-Barr… read more here.
Keywords: presenting lymphoproliferation; errors immunity; lymphoproliferation; case ... See more keywords
Rapamycin Controls Lymphoproliferation and Reverses T-Cell Responses in a Patient with a Novel STIM1 Loss-of-Function Deletion
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DOI: 10.1007/s10875-024-01682-0
Abstract: Deficiency of stromal interaction molecule 1 (STIM1) results in combined immunodeficiency accompanied by extra-immunological findings like enamel defects and myopathy. We here studied a patient with a STIM1 loss-of-function mutation who presented with severe lymphoproliferation.… read more here.
Keywords: deletion; loss; rapamycin; lymphoproliferation ... 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
Abnormal thymic maturation and lymphoproliferation in MRL-Fas lpr/lpr mice can be partially reversed by synthetic oligonucleotides: implications for systemic lupus erythematosus and autoimmune lymphoproliferative syndrome
Sign Up to like & getrecommendations! Published in 2017 at "Lupus"
DOI: 10.1177/0961203316676381
Abstract: MRL-Fas lpr/lpr mice represent an excellent animal model for studying non-malignant lymphoproliferation, regeneration and systemic autoimmunity. Retro-transposon insertion into the second intron of the pro-apoptotic Fas gene appears to be responsible for both lymphoproliferation and… read more here.
Keywords: lymphoproliferation; fas; mrl fas; mice ... See more keywords
ADA2 Deficiency Mimicking Idiopathic Multicentric Castleman Disease
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DOI: 10.1542/peds.2017-2266
Abstract: We report on the first case of DADA2 that mimics the clinicopathologic features of MCD. Multicentric Castleman disease (MCD) is a rare entity that, unlike unicentric Castleman disease, involves generalized polyclonal lymphoproliferation, systemic inflammation, and… read more here.
Keywords: lymphoproliferation; castleman disease; systemic inflammation; dada2 ... See more keywords
Non-malignant, non-infectious lymphoproliferation: challenges in the diagnosis and treatment of autoimmune lymphoproliferative syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Orvosi hetilap"
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