{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T09:29:46Z","timestamp":1793179786813,"version":"4.5.0"},"reference-count":45,"publisher":"American Society of Hematology","issue":"17","content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2022,9,13]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Src-related thrombocytopenia (SRC-RT) is a rare autosomal dominant, inherited platelet disorder resulting from the p.E527K heterozygous germline gain-of-function variant of Src. To date, genetic diagnosis of the disease has only been reported in 7 patients from 3 unrelated families. The clinical features ranged from isolated thrombocytopenia to complex syndromic manifestations characterized by thrombocytopenia, bleeding, myelofibrosis, splenomegaly, and bone disease. We report a new 3-generation kindred with the Src p.E527K variant. Patients presented with rather variable platelet counts (38-139 \u00d7 109\/L), mildly impaired platelet function, &amp;gt;15% immature platelet fraction, and with a significant proportion of large-giant platelets. Four adults from the family were diagnosed with immune thrombocytopenia (ITP) and underwent splenectomy, achieving sustained platelet counts &amp;gt;75 \u00d7 109\/L for several years; increases in platelet counts were also observed after corticosteroid therapy. Four of 7 Src p.E527K variant carriers showed immune defects and recurrent infections. In addition, a range of neurological symptoms, from specific language impairment to epilepsy, was seen in some family members. Patient platelets exhibited constitutive Src, Bruton tyrosine kinase, and phospholipase C\u03b32 activation, and after stimulating CD19 cells by crosslinking surface immunoglobulin M, phosphorylated extracellular signal-regulated kinase (ERK) was significantly increased in B cells from individuals carrying the Src p.E527K substitution. In summary, in addition to causing impaired platelet production, SRC-RT may associate immune dysregulation and increased platelet consumption. In families in whom several members are responsive to ITP-directed therapies, an underlying Src p.E527K variant should be excluded.<\/jats:p>","DOI":"10.1182\/bloodadvances.2021005446","type":"journal-article","created":{"date-parts":[[2022,3,29]],"date-time":"2022-03-29T23:07:52Z","timestamp":1648595272000},"page":"5244-5255","update-policy":"https:\/\/doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":17,"title":["Src-related thrombocytopenia: a fine line between a megakaryocyte dysfunction and an immune-mediated disease"],"prefix":"10.1182","volume":"6","author":[{"given":"Ver\u00f3nica","family":"Palma-Barqueros","sequence":"first","affiliation":[{"name":"1Servicio de Hematolog\u00eda y Oncolog\u00eda M\u00e9dica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonaci\u00f3n, Universidad de Murcia, IMIB-Arrixaca, CIBERER-U765, Murcia, Spain;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0995-1043","authenticated-orcid":false,"given":"Nuria","family":"Revilla","sequence":"additional","affiliation":[{"name":"2Servicio de Hematolog\u00eda, Hospital Universitario Ram\u00f3n y Cajal, Madrid, Spain;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1754-1260","authenticated-orcid":false,"given":"Carlo","family":"Zaninetti","sequence":"additional","affiliation":[{"name":"3Institut f\u00fcr Immunologie und Transfusionsmedizin, Universit\u00e4tsmedizin Greifswald Hospital, Greifswald, Germany;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5355-8003","authenticated-orcid":false,"given":"Ana Mar\u00eda","family":"Galera","sequence":"additional","affiliation":[{"name":"4Secci\u00f3n de OncoHematolog\u00eda Pedi\u00e1trica, Hospital Universitario Virgen de la Arrixaca, Murcia, IMIB-Arrixaca, Murcia, Spain;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4656-4771","authenticated-orcid":false,"given":"Ana","family":"S\u00e1nchez-Fuentes","sequence":"additional","affiliation":[{"name":"1Servicio de Hematolog\u00eda y Oncolog\u00eda M\u00e9dica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonaci\u00f3n, Universidad de Murcia, IMIB-Arrixaca, CIBERER-U765, Murcia, Spain;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5562-203X","authenticated-orcid":false,"given":"Ana","family":"Z\u00e1mora-C\u00e1novas","sequence":"additional","affiliation":[{"name":"1Servicio de Hematolog\u00eda y Oncolog\u00eda M\u00e9dica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonaci\u00f3n, Universidad de Murcia, IMIB-Arrixaca, CIBERER-U765, Murcia, Spain;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalia","family":"Bohdan","sequence":"additional","affiliation":[{"name":"1Servicio de Hematolog\u00eda y Oncolog\u00eda M\u00e9dica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonaci\u00f3n, Universidad de Murcia, IMIB-Arrixaca, CIBERER-U765, Murcia, Spain;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9","family":"Padilla","sequence":"additional","affiliation":[{"name":"1Servicio de Hematolog\u00eda y Oncolog\u00eda M\u00e9dica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonaci\u00f3n, Universidad de Murcia, IMIB-Arrixaca, CIBERER-U765, Murcia, Spain;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Mar\u00edn-Quilez","sequence":"additional","affiliation":[{"name":"5Department of Hematology, Complejo Asistencial Universitario de Salamanca, Instituto de Investigaci\u00f3n Biom\u00e9dica de Salamanca, Universidad de Salamanca, Salamanca, Spain;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3583-2977","authenticated-orcid":false,"given":"Agust\u00edn","family":"Rodriguez-Alen","sequence":"additional","affiliation":[{"name":"6Hospital Virgen de la Salud, Complejo Hospitalario de Toledo, Toledo, Spain; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4881-9440","authenticated-orcid":false,"given":"Jos\u00e9 Luis","family":"Fuster","sequence":"additional","affiliation":[{"name":"4Secci\u00f3n de OncoHematolog\u00eda Pedi\u00e1trica, Hospital Universitario Virgen de la Arrixaca, Murcia, IMIB-Arrixaca, Murcia, Spain;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8343-7336","authenticated-orcid":false,"given":"Andreas","family":"Greinacher","sequence":"additional","affiliation":[{"name":"3Institut f\u00fcr Immunologie und Transfusionsmedizin, Universit\u00e4tsmedizin Greifswald Hospital, Greifswald, Germany;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4278-3264","authenticated-orcid":false,"given":"Vicente","family":"Vicente","sequence":"additional","affiliation":[{"name":"1Servicio de Hematolog\u00eda y Oncolog\u00eda M\u00e9dica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonaci\u00f3n, Universidad de Murcia, IMIB-Arrixaca, CIBERER-U765, Murcia, Spain;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8007-3909","authenticated-orcid":false,"given":"Jos\u00e9 Mar\u00eda","family":"Bastida","sequence":"additional","affiliation":[{"name":"5Department of Hematology, Complejo Asistencial Universitario de Salamanca, Instituto de Investigaci\u00f3n Biom\u00e9dica de Salamanca, Universidad de Salamanca, Salamanca, Spain;"},{"name":"7on behalf of the \u201cInherited Platelet Disorders Project,\u201d Grupo Espa\u00f1ol de Alteraciones Plaquetarias Cong\u00e9nitas, Spanish Society of Thrombosis and Haemostasis (SETH), Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4225-6840","authenticated-orcid":false,"given":"Jos\u00e9","family":"Rivera","sequence":"additional","affiliation":[{"name":"1Servicio de Hematolog\u00eda y Oncolog\u00eda M\u00e9dica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonaci\u00f3n, Universidad de Murcia, IMIB-Arrixaca, CIBERER-U765, Murcia, Spain;"},{"name":"7on behalf of the \u201cInherited Platelet Disorders Project,\u201d Grupo Espa\u00f1ol de Alteraciones Plaquetarias Cong\u00e9nitas, Spanish Society of Thrombosis and Haemostasis (SETH), Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3148-7037","authenticated-orcid":false,"given":"Mar\u00eda 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