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GTR Home > Conditions/Phenotypes > TFRC-related combined immunodeficiency

TFRC-related combined immunodeficiency

Synonyms
Immunodeficiency 46
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

A rare genetic combined T and B cell immunodeficiency characterised by life-threatening infections due to disrupted transferrin receptor 1 endocytosis, resulting in defective cellular iron transport and impaired T and B cell function. Patients present with early-onset chronic diarrhoea, severe recurrent infections and failure to thrive. Laboratory studies reveal hypo or agammaglobulinaemia, normal lymphocyte counts but decreased numbers of memory B cells, intermittent neutropenia and thrombocytopenia, and mild anaemia (resistant to iron supplementation) with low mean corpuscular volume. [from SNOMEDCT_US]

Available tests

10 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (10 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CD71, IMD46, T9, TFR, TFR1, TR, TRFR, p90, TFRC
    Summary: transferrin receptor

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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