https://m2.mtmt.hu/ hun 2026-09-21 05:43 JournalArticle 33133734 VALIDATED true 0 false 2026-05-22T05:10:30.818+0000 2022-10-10T11:49:41.288+0000 2022-10-10T11:43:11.448+0000 true 10080205 Szalóky-Siki Ágnes /api/admin/10080205 Admin true 2023-09-26T10:33:43.594+0000 2023-09-26T10:33:43.594+0000 2022-10-10T11:49:41.295+0000 true 10080205 Szalóky-Siki Ágnes /api/admin/10080205 Admin true true false true 24 24 /api/publicationtype/24 PublicationType 1 true 24 JournalArticle true 10000059 Article true 24 24 /api/publicationtype/24 PublicationType 1 true 24 JournalArticle /api/subtype/10000059 Szakcikk SubType 101 true 10000059 true 1 /api/category/1 Category true 1 Erdos, Melinda Case Report: Association between cyclic neutropenia and SRP54 deficiency true true /api/journal/10023324 REVIEWED true false 10023324 false 10023324 true 1664-3224 1664-3224 Journal FOREIGN 13 975017 975017 8 2022 Autosomal dominant mutations in the signal recognition particle (SRP) 54 gene were recently described in patients with severe congenital neutropenia (SCN). SRP54 deficiency cause a chronic and profound neutropenia with maturation arrest at the promyelocyte stage, occurring in the first months of life. Nearly all reported patients with SRP54 mutations had neutropenia without a cyclic pattern and showed a poor or no response to granulocyte colony-stimulating factor (G-CSF) therapy. We report here an 11-year-old female patient with cyclic neutropenia and recurrent heterozygous p.T117del (c.349_351del) in-frame deletion mutation in SRP54, who showed remarkable therapeutic response to G-CSF treatment. The diagnosis of cyclic pattern of neutropenia was established by acceptable standards. ELANE gene mutation was excluded by using various genetic approaches. The patient described here also had dolichocolon which has not been described before in association with SCN. true 2022 true true true false true false GOLD 2026-05-22 true https://doi.org/10.3389/fimmu.2022.975017 4 0 4 3 0 4 4 4 2 4 4 3 3 3 1 0 4 3 4 3 0 1 1 Folyóiratcikk Journal Article 24 4 Könyvrészlet Chapter in Book 25 0 Könyv Book 23 0 Egyéb konferenciaközlemény Conference paper 31 0 Egyéb konferenciakötet Conference proceedings 32 0 Oltalmi formák Protection forms 26 0 Disszertáció Thesis 28 0 Egyéb Miscellaneous 29 0 Alkotás Achievement 22 0 Kutatási adat Research data 33 0 Folyóiratcikk Journal Article 24 0 0 0 Könyvrészlet Chapter in Book 25 0 0 0 Könyv Book 23 0 0 0 Egyéb konferenciaközlemény Conference paper 31 0 0 0 Egyéb konferenciakötet Conference proceedings 32 0 0 0 Oltalmi formák Protection forms 26 0 0 0 Disszertáció Thesis 28 0 0 0 Egyéb Miscellaneous 29 0 0 0 Alkotás Achievement 22 0 0 0 Kutatási adat Research data 33 0 0 0 2023 0 1 1 1 1 2024 0 2 1 2 1 2025 0 1 1 1 1 Q1 false false false false 2022-10-09T11:49:41.175+0000 Bőr-, Nemikórtani és Bőronkológiai Klinika (SE / AOK / K) 2 9 1 3 0 true Language 10002 /api/language/10002 Angol English true 2 true PersonAuthorship 103713816 /api/authorship/103713816 1 0.333 true false false Author 10000682 /api/author/10000682 Erdős Melinda true 10000682 true Erdos Melinda true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 103713817 /api/authorship/103713817 2 0.333 true false Boyarchuk Oksana true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 103713818 /api/authorship/103713818 3 0.333 false true true Author 10000717 /api/author/10000717 Maródi László true 10000717 true Marodi Laszlo true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PublicationIdentifier 21778635 /api/publicationidentifier/21778635 PlainSource 6 /api/publicationsource/6 PublicationSourceType 10001 /api/publicationsourcetype/10001 true true true DOI DOI https://doi.org/@@@ true true 6 true GOLD true IDENTICAL 10.3389/fimmu.2022.975017 https://doi.org/10.3389/fimmu.2022.975017 false true PublicationIdentifier 21778636 /api/publicationidentifier/21778636 PlainSource 1 /api/publicationsource/1 PublicationSourceType 10003 /api/publicationsourcetype/10003 false true true WoS WoS https://www.webofscience.com/wos/woscc/full-record/@@@ true true 1 true IDENTICAL 000860731200001 https://www.webofscience.com/wos/woscc/full-record/000860731200001 false true PublicationIdentifier 21778638 /api/publicationidentifier/21778638 PlainSource 3 /api/publicationsource/3 PublicationSourceType 10003 /api/publicationsourcetype/10003 false true true Scopus Scopus http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-@@@ true true 3 true IDENTICAL 85138514248 http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85138514248 false true PublicationIdentifier 21778637 /api/publicationidentifier/21778637 PlainSource 17 /api/publicationsource/17 PublicationSourceType 10003 /api/publicationsourcetype/10003 false true true PubMed PubMed http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=@@@&dopt=Abstract true true 17 true IDENTICAL 36159802 http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=36159802&dopt=Abstract false true Classification 12279 /api/classification/12279 true true Keyword 473 /api/keyword/473 true 473 true Keyword 595 /api/keyword/595 true 595 true Keyword 14612 /api/keyword/14612 true 14612 true Keyword 1498951 /api/keyword/1498951 true true Keyword 1624658 /api/keyword/1624658 true true Keyword 1963851 /api/keyword/1963851 true true Keyword 2746469 /api/keyword/2746469 true true Keyword 2746470 /api/keyword/2746470 true true Keyword 2746471 /api/keyword/2746471 true true SjrRating 11304089 /api/sjrrating/11304089 39 0.24 journal RatingType 10002 /api/ratingtype/10002 sjr true true ClassificationExternal 2403 /api/classificationexternal/2403 true 2403 true Q1 DIRECT true true /api/publication/33133734 <div class="JournalArticle Publication long-list"> <div class="authors"> <img title="Forrásközlemény" style="float: left" src="/frontend/resources/grid/publication-core-icon.png"> <img title="Idézőközlemény" style="float: left" src="/frontend/resources/grid/publication-citation-icon.png"> <div class="autype autype0"> <span class="author-name" mtid="10000682"><a href="/gui2/?type=authors&mode=browse&sel=10000682" target="_blank">Erdos Melinda (<span class="authorship-author-name">Erdős Melinda</span> <span class="authorAux-mtmt"> Immunológia, infektológia, gyermekgyógyászat</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/Bőr-, Nemikórtani és Bőronkológiai Klinika</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Boyarchuk Oksana<sup>*</sup> </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10000717"><a href="/gui2/?type=authors&mode=browse&sel=10000717" target="_blank">Marodi Laszlo ✉ (<span class="authorship-author-name">Maródi László</span> <span class="authorAux-mtmt"> Klinikai immunológia és infektológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/Bőr-, Nemikórtani és Bőronkológiai Klinika</span> </div> </div> <div class="title"><a href="/gui2/?mode=browse&params=publication;33133734" target="_blank">Case Report: Association between cyclic neutropenia and SRP54 deficiency</a></div> <div> <span class="journal-title">FRONTIERS IN IMMUNOLOGY</span> <span class="journal-issn">(<a target="_blank" href="https://portal.issn.org/resource/ISSN/1664-3224">1664-3224</a> <a target="_blank" href="https://portal.issn.org/resource/ISSN/1664-3224">1664-3224</a>)</span>: <span class="journal-volume">13</span> <span class="page"> Paper 975017. 8 p. </span> <span class="year">(2022)</span> </div> <div class="pub-footer"> <span class="language" xmlns="http://www.w3.org/1999/html">Nyelv: Angol | </span> <span class="identifiers"> <span class="id identifier oa_GOLD" title=" Gold "> <a style="color:blue" title="10.3389/fimmu.2022.975017" target="_blank" href="https://doi.org/10.3389/fimmu.2022.975017"> DOI </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="000860731200001" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/000860731200001"> WoS </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="85138514248" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85138514248"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="36159802" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=36159802&dopt=Abstract"> PubMed </a> </span> </span> <OnlyViewableByAuthor><div class="ratings"> <div class="journal-subject">Folyóirat szakterülete: Scopus - Immunology&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q1</div> <div class="journal-subject">Folyóirat szakterülete: Scopus - Immunology and Allergy&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q1</div> </div></OnlyViewableByAuthor> <div class="publication-citation" style="margin-left: 0.5cm;"> <span title="Nyilvános idézőközlemények összesen, említések nélkül" class="citingPub-count">Nyilvános idéző összesen: 4</span> | Független: 3 | Függő: 1 | Nem jelölt: 0 | WoS jelölt: 4 | Scopus jelölt:&nbsp;2 | WoS/Scopus jelölt:&nbsp;4 | DOI jelölt:&nbsp;4 </div> <div class="publication-citation"> <a target="_blank" href="/api/publication?cond=citations.related;eq;33133734&sort=publishedYear,desc&sort=title"> Idézett közlemények száma: 1 </a> </div> <div class="mtid"><span class="long-pub-mtid">Közlemény: 33133734</span> | <span class="status-data status-VALIDATED"> Egyeztetett </span> Forrás Idéző | <span class="type-subtype">Folyóiratcikk ( Szakcikk ) </span> | <span class="pub-category">Tudományos</span> | <span class="publication-sourceOfData">WOS TAGGED</span> </div> <div class="lastModified">Utolsó módosítás: 2022.10.10. 13:49 Szalóky-Siki Ágnes (SE_KK_Admin5_SZSA, admin) </div> </div></div>