FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3005337567> ?p ?o ?g. }

• W3005337567 endingPage "56" @default.
• W3005337567 startingPage "54" @default.
• W3005337567 abstract "LPS-responsive beige-like anchor (LRBA) deficiency is a primary immunodeficiency characterized by; recurrent sinopulmonary infections with hypogammaglobulinemia, lymphoproliferation, immunodysregulation, which presents by enteropathy, cytopenias, and autoimmune endocrinopathy. The LRBA protein is a cytosolic protein that is expressed in several cell types including hematopoietic, neural, gastrointestinal and endocrine cells. LRBA regulates cytotoxic T lymphocyte antigen-4 (CTLA-4) turnover in endosomes. CTLA-4 is a critical and potent inhibitor of T-cell proliferation that serves as a “checkpoint” of immune responses. CTLA-4 is a crucial T-cell inhibitory receptor. CD28 is principal T-cell costimulatory molecule and critical for inducing T-cell proliferation CD28 and CTLA-4 compete for the same ligands, on the surface of antigen-presenting cells (CD80 and CD86). Moreover, CTLA-4 binds CD80 and CD86 with significantly higher affinity and avidity than CD28. CTLA4 inhibits T cell proliferation by binding to these ligands. Most CTLA-4 is stored in recycling endosomes, which cycle to the cell surface following T-cell activation. LRBA regulates intracellular CTLA-4 traffic. It prevents lysosomal degradation of CTLA4. Therefore, the inflammatory response cannot be limited in LRBA deficiency. The clinical features are heterogeneous. Age of presentation ranging from two months to 12 years. The majority (71 %) presented at or before 5 years of age. The disease phenotype can be divided into an enteropathy phenotype, an autoimmunity phenotype and an immunodeficiency phenotype. The enteropathy phenotype includes autoimmune enteropathy, IBD/IBD-like disease and non-infectious diarrhea; the immunodeficiency phenotype includes combined immunodeficiency (CID), CVID and a CVID-like disease and the autoimmunity phenotype includes mainly AIHA and/or ITP were the most common, followed by autoimmune thyroid disease, type 1 diabetes mellitus, JIA and celiac like disease. Case 1. NG, 14 years 6 months old, female patient She was diagnosed with Type 1 DM at 9 months of age (Anti-GAD Antibody positive). Her complaints of diarrhea began at the age of 5 (6-7 times / day, watery). She had been brought to an outer center for chronic diarrhea. In the histopathological examination obtained by upper GIS endoscopy, villus atrophy, crypt hiperplasia, and intraepithelial lymphocytosis were detected. Anti-tissue transglutaminase IgA and Anti-endomisium IgA were negative. Other tests for the etiology of chronic diarrhea were normal. She started a gluten-free diet at the age of 5. Since there was no response to the gluten-free diet. HLA DQ2, and DQ8 tests were negative, the gluten-free diet was discontinued when she was 7years old. During this two-year period of gluten-free diet, steroid treatment had also been tried for refractory celiac, for 6 months. A partial response to steroid treatment was achieved and diarrhea increased after discontinuation. At the age of 8, she had swelling, redness and limitation of movement in one knee and then in both knees, which repeated intermittently. She was thought to have JIA and a NSAID was used." @default.
• W3005337567 created "2020-02-14" @default.
• W3005337567 creator A5012489162 @default.
• W3005337567 date "2019-12-18" @default.
• W3005337567 modified "2023-09-23" @default.
• W3005337567 title "Clinical And İmmunological Features Of Three Lrba Deficiency Patients" @default.
• W3005337567 hasPublicationYear "2019" @default.
• W3005337567 type Work @default.
• W3005337567 sameAs 3005337567 @default.
• W3005337567 citedByCount "0" @default.
• W3005337567 crossrefType "journal-article" @default.
• W3005337567 hasAuthorship W3005337567A5012489162 @default.
• W3005337567 hasConcept C126322002 @default.
• W3005337567 hasConcept C148125776 @default.
• W3005337567 hasConcept C154317977 @default.
• W3005337567 hasConcept C159654299 @default.
• W3005337567 hasConcept C202751555 @default.
• W3005337567 hasConcept C203014093 @default.
• W3005337567 hasConcept C21705690 @default.
• W3005337567 hasConcept C2776090121 @default.
• W3005337567 hasConcept C2776433325 @default.
• W3005337567 hasConcept C2778297628 @default.
• W3005337567 hasConcept C2778426112 @default.
• W3005337567 hasConcept C2779134260 @default.
• W3005337567 hasConcept C2780130043 @default.
• W3005337567 hasConcept C2781101188 @default.
• W3005337567 hasConcept C39347974 @default.
• W3005337567 hasConcept C55493867 @default.
• W3005337567 hasConcept C71924100 @default.
• W3005337567 hasConcept C86803240 @default.
• W3005337567 hasConcept C8891405 @default.
• W3005337567 hasConceptScore W3005337567C126322002 @default.
• W3005337567 hasConceptScore W3005337567C148125776 @default.
• W3005337567 hasConceptScore W3005337567C154317977 @default.
• W3005337567 hasConceptScore W3005337567C159654299 @default.
• W3005337567 hasConceptScore W3005337567C202751555 @default.
• W3005337567 hasConceptScore W3005337567C203014093 @default.
• W3005337567 hasConceptScore W3005337567C21705690 @default.
• W3005337567 hasConceptScore W3005337567C2776090121 @default.
• W3005337567 hasConceptScore W3005337567C2776433325 @default.
• W3005337567 hasConceptScore W3005337567C2778297628 @default.
• W3005337567 hasConceptScore W3005337567C2778426112 @default.
• W3005337567 hasConceptScore W3005337567C2779134260 @default.
• W3005337567 hasConceptScore W3005337567C2780130043 @default.
• W3005337567 hasConceptScore W3005337567C2781101188 @default.
• W3005337567 hasConceptScore W3005337567C39347974 @default.
• W3005337567 hasConceptScore W3005337567C55493867 @default.
• W3005337567 hasConceptScore W3005337567C71924100 @default.
• W3005337567 hasConceptScore W3005337567C86803240 @default.
• W3005337567 hasConceptScore W3005337567C8891405 @default.
• W3005337567 hasIssue "4" @default.
• W3005337567 hasLocation W30053375671 @default.
• W3005337567 hasOpenAccess W3005337567 @default.
• W3005337567 hasPrimaryLocation W30053375671 @default.
• W3005337567 hasRelatedWork W1532500625 @default.
• W3005337567 hasRelatedWork W1861036418 @default.
• W3005337567 hasRelatedWork W1975842944 @default.
• W3005337567 hasRelatedWork W1986259180 @default.
• W3005337567 hasRelatedWork W2003529719 @default.
• W3005337567 hasRelatedWork W2028642868 @default.
• W3005337567 hasRelatedWork W2047436830 @default.
• W3005337567 hasRelatedWork W2089767884 @default.
• W3005337567 hasRelatedWork W2098757489 @default.
• W3005337567 hasRelatedWork W2397769881 @default.
• W3005337567 hasRelatedWork W2405564683 @default.
• W3005337567 hasRelatedWork W2581425499 @default.
• W3005337567 hasRelatedWork W2597170768 @default.
• W3005337567 hasRelatedWork W2617979892 @default.
• W3005337567 hasRelatedWork W2908034385 @default.
• W3005337567 hasRelatedWork W2908102601 @default.
• W3005337567 hasRelatedWork W2952167883 @default.
• W3005337567 hasRelatedWork W3015524975 @default.
• W3005337567 hasRelatedWork W3132390741 @default.
• W3005337567 hasRelatedWork W2184046389 @default.
• W3005337567 hasVolume "7" @default.
• W3005337567 isParatext "false" @default.
• W3005337567 isRetracted "false" @default.
• W3005337567 magId "3005337567" @default.
• W3005337567 workType "article" @default.