Matches in SemOpenAlex for { <https://semopenalex.org/work/W2065758664> ?p ?o ?g. }
- W2065758664 abstract "The paper reported on a case of severe myoclonic epilepsy of infancy (SMEI) associated with a probable autoimmune lymphoproliferative syndrome variant (Dianzani autoimmune lymphoproliferative disease) (DALD). A male patient with typical features of SMEI and a SCN1A gene variant presented in the first year of life with multiple lymph nodes, palpable liver at 2 cm from the costal margin, neutropenia, dysgammaglobulinemia, relative and sometimes absolute lymphocytosis. Subsequently the patient presented with constantly raised IgA in serum and positive antinuclear and thyroid antimicrosomal antibodies. The diagnosis of probable autoimmune lymphoproliferative syndrome was made; arthritis, skin and throat blisters, which appeared subsequently led to the diagnosis of linear IgA disease. On the basis of these unique associations, the Authors hypothesized that autoimmunity may be partly responsible of the severe epileptic symptomatology, perhaps mediated by autoantibodies against sodium channels or by accompanying cytotoxic T-lymphocytes. Corticosteroid treatment ameliorated the epilepsy and laboratory tests. Future studies will be necessary to evaluate the relevance of autoimmunity in SMEI." @default.
- W2065758664 created "2016-06-24" @default.
- W2065758664 creator A5028554438 @default.
- W2065758664 creator A5078465624 @default.
- W2065758664 creator A5090584383 @default.
- W2065758664 date "2014-12-30" @default.
- W2065758664 modified "2023-09-23" @default.
- W2065758664 title "Association of severe myoclonic epilepsy of infancy (SMEI) with probable autoimmune lymphoproliferative syndrome-variant" @default.
- W2065758664 cites W1480749237 @default.
- W2065758664 cites W1514099677 @default.
- W2065758664 cites W1605213317 @default.
- W2065758664 cites W1944641016 @default.
- W2065758664 cites W1964739221 @default.
- W2065758664 cites W1965197772 @default.
- W2065758664 cites W1966093407 @default.
- W2065758664 cites W1970564212 @default.
- W2065758664 cites W1970581535 @default.
- W2065758664 cites W1972263342 @default.
- W2065758664 cites W1973057166 @default.
- W2065758664 cites W1975873522 @default.
- W2065758664 cites W1988802500 @default.
- W2065758664 cites W1991413364 @default.
- W2065758664 cites W2001711511 @default.
- W2065758664 cites W2002287811 @default.
- W2065758664 cites W2004827012 @default.
- W2065758664 cites W2005770035 @default.
- W2065758664 cites W2007688391 @default.
- W2065758664 cites W2011278122 @default.
- W2065758664 cites W2021906680 @default.
- W2065758664 cites W2025044046 @default.
- W2065758664 cites W2025044373 @default.
- W2065758664 cites W2025946997 @default.
- W2065758664 cites W2027359346 @default.
- W2065758664 cites W2034776586 @default.
- W2065758664 cites W2046309033 @default.
- W2065758664 cites W2051476584 @default.
- W2065758664 cites W2055311981 @default.
- W2065758664 cites W2060062347 @default.
- W2065758664 cites W2063129836 @default.
- W2065758664 cites W2085173450 @default.
- W2065758664 cites W2085856553 @default.
- W2065758664 cites W2087982685 @default.
- W2065758664 cites W2088480313 @default.
- W2065758664 cites W2089244519 @default.
- W2065758664 cites W2100497330 @default.
- W2065758664 cites W2130171725 @default.
- W2065758664 cites W2135409610 @default.
- W2065758664 cites W2141894346 @default.
- W2065758664 cites W2147751393 @default.
- W2065758664 cites W2148033852 @default.
- W2065758664 cites W2149405816 @default.
- W2065758664 cites W2154757961 @default.
- W2065758664 cites W2155864206 @default.
- W2065758664 cites W2157702138 @default.
- W2065758664 cites W2161608686 @default.
- W2065758664 cites W2166502714 @default.
- W2065758664 cites W2172646270 @default.
- W2065758664 cites W2260924202 @default.
- W2065758664 cites W2332960463 @default.
- W2065758664 cites W248162401 @default.
- W2065758664 cites W1967941999 @default.
- W2065758664 cites W2432127713 @default.
- W2065758664 cites W2591416 @default.
- W2065758664 doi "https://doi.org/10.4081/pmc.2014.100" @default.
- W2065758664 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25669891" @default.
- W2065758664 hasPublicationYear "2014" @default.
- W2065758664 type Work @default.
- W2065758664 sameAs 2065758664 @default.
- W2065758664 citedByCount "0" @default.
- W2065758664 crossrefType "journal-article" @default.
- W2065758664 hasAuthorship W2065758664A5028554438 @default.
- W2065758664 hasAuthorship W2065758664A5078465624 @default.
- W2065758664 hasAuthorship W2065758664A5090584383 @default.
- W2065758664 hasBestOaLocation W20657586641 @default.
- W2065758664 hasConcept C118552586 @default.
- W2065758664 hasConcept C149443304 @default.
- W2065758664 hasConcept C159654299 @default.
- W2065758664 hasConcept C163764329 @default.
- W2065758664 hasConcept C203014093 @default.
- W2065758664 hasConcept C2775859823 @default.
- W2065758664 hasConcept C2778186239 @default.
- W2065758664 hasConcept C2779075594 @default.
- W2065758664 hasConcept C2780130043 @default.
- W2065758664 hasConcept C71924100 @default.
- W2065758664 hasConceptScore W2065758664C118552586 @default.
- W2065758664 hasConceptScore W2065758664C149443304 @default.
- W2065758664 hasConceptScore W2065758664C159654299 @default.
- W2065758664 hasConceptScore W2065758664C163764329 @default.
- W2065758664 hasConceptScore W2065758664C203014093 @default.
- W2065758664 hasConceptScore W2065758664C2775859823 @default.
- W2065758664 hasConceptScore W2065758664C2778186239 @default.
- W2065758664 hasConceptScore W2065758664C2779075594 @default.
- W2065758664 hasConceptScore W2065758664C2780130043 @default.
- W2065758664 hasConceptScore W2065758664C71924100 @default.
- W2065758664 hasIssue "5-6" @default.
- W2065758664 hasLocation W20657586641 @default.
- W2065758664 hasLocation W20657586642 @default.
- W2065758664 hasLocation W20657586643 @default.
- W2065758664 hasOpenAccess W2065758664 @default.
- W2065758664 hasPrimaryLocation W20657586641 @default.