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

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

BackgroundHereditary 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 GNE...

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Bibliographic Details
Main Authors: Karolina I. Smolag, Marcus Fager Ferrari, Eva Zetterberg, Eva Leinoe, Torben Ek, Anna M. Blom, Maria Rossing, Myriam Martin
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-11-01
Series:Frontiers in Immunology
Subjects:
thrombocytopenia
GNE
factor H
complement activation
sialic acid
sialylation
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2021.777402/full

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https://www.frontiersin.org/articles/10.3389/fimmu.2021.777402/full

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