Pancitopenia por deficiencia congénita de la trascobalamina II, mutación del gen TCN2
Reporte de Caso
Abstract
Transcobalamin II deficiency (TC-II) is a rare autosomal recessive disease. A disease that appears in early childhood caused by mutations in the TCN2 gene. TC-II is a transport protein for vitamin B12 and facilitates its cellular uptake by receptor-mediated endocytosis. TC-II deficiency results in a lack of vitamin B12 entry into cells, this leads to the depletion of intracellular cobalamin. Patients with this disorder show clinical features such as growth retardation, diarrhea, pancytopenia, neurological abnormalities, and infections due to immunodeficiency. The following is a case of a 1-month-old patient with gastrointestinal symptoms, recurrent infections, cyclical pancytopenia, severe anemia, neutropenia, thrombocytopenia, plus low-B-lymphocyte-count secondary to transcobalamin deficiency due to alteration of the TCN2 gene.
References
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