دورية أكاديمية
Highly impaired platelet ultrastructure in two families with novel IKZF5 variants.
| العنوان: | Highly impaired platelet ultrastructure in two families with novel IKZF5 variants. |
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| المؤلفون: | Leinoe E; Department of Hematology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Kjaersgaard M; Department of Pediatrics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Zetterberg E; Department of Translational Medicine, Lund University, Malmö, Sweden., Ostrowski S; Department of Clinical Immunology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Greinacher A; Department of Immunology and Transfusion Medicine, Greifswald University Hospital, Greifswald, Germany., Rossing M; Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark. |
| المصدر: | Platelets [Platelets] 2021 May 19; Vol. 32 (4), pp. 492-497. Date of Electronic Publication: 2020 May 18. |
| نوع المنشور: | Case Reports; Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Informa Healthcare Country of Publication: England NLM ID: 9208117 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1369-1635 (Electronic) Linking ISSN: 09537104 NLM ISO Abbreviation: Platelets Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: London : Informa Healthcare Original Publication: Edinburgh ; New York : Churchill Livingstone, c1990- |
| مواضيع طبية MeSH: | Blood Platelets/*ultrastructure , Genetic Variation/*genetics , Ikaros Transcription Factor/*metabolism, Child, Preschool ; Female ; Gene Expression Regulation ; Humans ; Middle Aged |
| مستخلص: | Heterozygous variants in the IKZF5 gene, encoding transcription factor Pegasus, were recently discovered to be causal of inherited thrombocytopenia (IT). We screened 90 patients suspected of inherited thrombocytopenia for variants in 101 genes associated with inherited bleeding disorders and report the clinical presentation of two Danish families with novel variants in IKZF5. Platelet ultrastructure and cytoskeleton were evaluated by immunofluorescent microscopy (IF) and found to be highly abnormal, demonstrating severe disturbances of distribution and expression of non-muscular myosin, filamin, β-tubulin and α tubulin. Number of alpha granules were reduced, and platelets elongated when evaluated by TEM. In both families a child carrying a rare IKZF5 variant was affected by developmental delay. The proband of family A presented with recurrent infections and was examined for an immunodeficiency. The concentration of naive B-cells was found moderately reduced by leucocyte subpopulation examination, indicating an impaired cellular immunity. T-cells were marginally low with reduced share and concentration of CD45RApos, CD31pos, CD4pos recent thymic immigrants as signs of reduced thymic output. The novel IKZF5 variants co-segregated with thrombocytopenia in both families and both probands had significant bleeding tendency. Through comprehensive characterizations of the platelet morphology and function linked to the specific phenotypes we add novel insight to IKZF5 -associated thrombocytopenia, which may help to identify and classify more cases with IKZF5 associated IT. |
| فهرسة مساهمة: | Keywords: IKZF5; inherited thrombocytopenia; platelet ultrastructure |
| المشرفين على المادة: | 0 (IKZF5 protein, human) 148971-36-2 (Ikaros Transcription Factor) |
| تواريخ الأحداث: | Date Created: 20200519 Date Completed: 20220104 Latest Revision: 20220104 |
| رمز التحديث: | 20231215 |
| DOI: | 10.1080/09537104.2020.1764921 |
| PMID: | 32419556 |
| قاعدة البيانات: | MEDLINE |
PDF full text from Publisher | تدمد: | 1369-1635 |
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| DOI: | 10.1080/09537104.2020.1764921 |