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ProteomicsLabel free mass spectrometry quantification of differentially expressed proteins in an atypical presentation of Autoimmune Lymphoproliferative Syndrome.
Autoimmune lymphoproliferative syndrome (ALPS) is a rare disease characterized among others things by chronic massive, nonmalignant lymphoadenopathy and splenomegaly. ALPS has been defined as a defect in the lymphocyte apoptotic pathway and is associate with inherited mutations in the FAS, Fas ligan...
ORGANISM(S): Homo sapiens (Human) 
2022-05-31 | PXD013289 | Pride
Caspase10 Fas Fasl Apoptosis Autoimmune lymphoproliferative syndrome (alps) Mutation Label-free quantitation. 
TranscriptomicsTranscription profiling of human peripheral blood mononuclear cells WITH a germline NRAS mutation vs controls reveals NRAScauses a novel human autoimmune lymphoproliferative syndrome (ALPS)
The p21 RAS subfamily of small GTPases, including KRAS, HRAS, and NRAS, regulates cell proliferation, cytoskeletal organization and other signaling networks, and is the most frequent target of activating mutations in cancer. Activating germline mutations of KRAS and HRAS cause severe developmental ...
ORGANISM(S): Homo sapiens 
2008-04-04 | E-GEOD-7345 | biostudies-arrayexpress
GenomicsRIPK1 inhibition restricts DNT cell pathogenesis and ameliorates autoimmune lymphoproliferative syndrome
RIPK1 inhibition restricts DNT cell pathogenesis and ameliorates autoimmune lymphoproliferative syndrome
PRJNA1273091 | ENA
UnknownRapamycin improves lymphoproliferative disease in murine autoimmune lymphoproliferative syndrome (ALPS).
Not available
S-EPMC1895548 | biostudies-literature
UnknownParadoxical CD4 Lymphopenia in Autoimmune Lymphoproliferative Syndrome (ALPS).
Not available
S-EPMC6549489 | biostudies-literature
UnknownAutoimmune lymphoproliferative syndrome misdiagnosed as hemophagocytic lymphohistiocytosis.
Not available
S-EPMC3813387 | biostudies-literature
UnknownHow I treat autoimmune lymphoproliferative syndrome.
Not available
S-EPMC3228494 | biostudies-literature
UnknownRevised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop.
Not available
S-EPMC2953894 | biostudies-literature
TranscriptomicsRIPK1 inhibition restricts DNT cell pathogenesis and ameliorates autoimmune lymphoproliferative syndrome
Autoimmune lymphoproliferative syndrome (ALPS) is an immune disorder characterized by pathological lymphoproliferation, multi-lineage autoimmunity, and lymphoma predisposition. A hallmark of ALPS is the expansion of double-negative T (DNT) cells, which correlates with disease severity, yet the mecha...
ORGANISM(S): Homo sapiens 
2026-09-10 | GSE299218 | GEO
TranscriptomicsGermline NRAS mutation causes a novel human autoimmune lymphoproliferative syndrome
The p21 RAS subfamily of small GTPases, including KRAS, HRAS, and NRAS, regulates cell proliferation, cytoskeletal organization and other signaling networks, and is the most frequent target of activating mutations in cancer. Activating germline mutations of KRAS and HRAS cause severe developmental a...
ORGANISM(S): Homo sapiens 
2008-03-21 | GSE7345 | GEO
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