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Tn syndrome
Epidemiology: rare
Pathology:
- autoimmune disease
- subpopulations of blood cells of all lineages carry an incompletely glycosylated membrane glycoprotein, i.e., the Tn antigen
- leukocytes & platelets are affected as well as red cells
Genetics:
- somatic mutation in the C1GALT1C1 gene
Laboratory:
- anemia
- leukopenia
- thrombocytopenia
Complications:
- Tn-polyagglutinability is sometimes associated with leukemia or is a preleukemic state
General
autoimmune disease
References
UniProt :accession Q96EU7