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Article

A novel mutation of the transcobalamin II gene in an infant presenting with hemophagocytic lymphohistiocytosis.

International journal of hematology - 1 Jan 2014

Unal Selma, Tezol Ozlem, Oztas Yesim

Abstract excerpt

Transcobalamin II (TC II) deficiency is a rare disorder of cobalamin (CBL, vitamin B12) metabolism that occurs due to mutations in transcobalamin gene (TCN2). Hemophagocytic lymphohistiocytosis (HLH) in contrast is a syndrome characterized by uncontrolled immune response with hyperinflammation. A 2-month-old male baby was admitted with complaints of fever, cough, diarrhea, and respiratory distress. The parents...

Read the complete abstract on PubMed

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Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 22

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Heterozygote

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Source

Identifiers

PMID: 24563082
DOI: 10.1007/s12185-014-1545-7

Genes

TCN2
CBL

Provenance

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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