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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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Other antibody deficiencies 

Similar to the patients with X-linked agammaglobulinemia (XLA)hyper IgM syndromecommon variable immune deficiency (CVID), and specific antibody deficiency (SAD), individuals with less common antibody deficiencies usually present with upper respiratory infections or infections of the sinuses or lungs, typically with organisms like Streptococcus pneumoniae and Haemophilus influenzae. Laboratory studies show low immunoglobulins and/or deficient specific antibody production. Many of these disorders also include abnormalities in the cells responsible for generating or maintaining an antibody response. The patients often improve with antibiotics but get sick again when these are discontinued. The cornerstone of therapy for antibody deficiency disorders is immunoglobulin (Ig) replacement therapy.

This page contains general medical and/or legal information that cannot be applied safely to any individual case. Medical and/or legal knowledge and practice can change rapidly. Therefore, this page should not be used as a substitute for professional medical and/or legal advice. Additionally, links to other resources and websites are shared for informational purposes only and should not be considered an endorsement by the Immune Deficiency Foundation.

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