Combined immunodeficiency due to TFRC deficiency

Engelsk navn: Combined immunodeficiency due to TFRC deficiency
Engelske synonym: 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.

Fra Orphanet

ORPHA: 476113
Klassifiseringsnivå: Disorder
ICD-10: D81.8

Mer informasjon

Deler av informasjonen over er hentet fra ORPHAdata med lisens: Commons Attribution 4.0 International (CC BY 4.0)