Combined immunodeficiency due to TFRC deficiency

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Synonyms: CID due to TFRC deficiency | TFRC-related combined immunodeficiency

A rare genetic combined T and B cell immunodeficiency characterized 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 diarrhea severe recurrent infections and failure to thrive. Laboratory studies reveal hypo- or agammaglobulinemia normal lymphocyte counts but decreased numbers of memory B cells intermittent neutropenia and thrombocytopenia and mild anemia (resistant to iron supplementation) with low mean corpuscular volume.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version July 2024

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