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Article

Identification of transcobalamin deficiency with two novel mutations in the TCN2 gene in a Chinese girl with abnormal immunity: a case report.

BMC pediatrics - 6 Oct 2020

Zhan Shihong, Cheng Fangfang, He Hailong, Hu Shaoyan, Feng Xing

Abstract excerpt

BACKGROUND: Transcobalamin (TC) transports vitamin B12 from blood into cells. TC II deficiency is a rare autosomal recessive disorder. It is characterized by failure to thrive, diarrhoea, pallor, anaemia, pancytopenia or agammaglobulinemia. It is usually confirmed by molecular analysis of the TCN2 gene. We report a 2-month-old girl with two novel mutations, which were first reported in humans. CASE PRESENTATION:...

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Identifiers

PMID: 33023511
DOI: 10.1186/s12887-020-02357-6
PMCID: PMC7537950

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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