Transcobalamin II deficiency

Defects in TCN22, a vitamin B 12-binding protein essential for transport of B12, are the cause of transcobalamin II deficiency. This disease is marked by defective intestinal absorption of vitamin B12.

Alternative names

TC II deficiency

Tc2 deficiency

Classification

  • Other well-defined immunodeficiency syndromes? Immunodeficiency with dermatological defects

Inheritance

Autosomal recessive

OMIM

*275350 Transcobalamin II deficiency

Cross references

Phenotypically related immunodeficiencies

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Incidence

Incidence unknown.