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Transcobalamin II deficiency

Related gene: TCN2

Inheritance pattern: Autosomal recessive

Transcobalamin II is a protein that transports vitamin B12 to the tissues of the gastrointestinal tract. A hereditary deficiency as a result of variants in the TCN2 gene is associated with anemia, failure to thrive, low white cell counts, and low serum antibody levels in infancy. It can be treated with B12 injections.

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Learn more about combined immune deficiencies.

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Adapted from the IDF Patient & Family Handbook for Primary Immunodeficiency Diseases, Sixth Edition 
Copyright ©2019 by Immune Deficiency Foundation, USA