Severe Congenital Thrombocytopenia Characterized by Decreased Platelet Sialylation and Moderate Complement Activation Caused by Novel Compound Heterozygous Variants in GNE

BACKGROUND: Hereditary thrombocytopenias constitute a genetically heterogeneous cause of increased bleeding. We report a case of a 17-year-old boy suffering from severe macrothrombocytopenia throughout his life. Whole genome sequencing revealed the presence of two compound heterozygous variants in G...

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Detalles Bibliográficos
Autores principales: Smolag, Karolina I., Fager Ferrari, Marcus, Zetterberg, Eva, Leinoe, Eva, Ek, Torben, Blom, Anna M., Rossing, Maria, Martin, Myriam
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8630651/
https://www.ncbi.nlm.nih.gov/pubmed/34858435
http://dx.doi.org/10.3389/fimmu.2021.777402

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8630651/
https://www.ncbi.nlm.nih.gov/pubmed/34858435
http://dx.doi.org/10.3389/fimmu.2021.777402

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