Combined immunodeficiency due to TFRC deficiency
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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
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Combined immunodeficiency due to TFRC deficiency?
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Care-for-Rare America Inc
To establish a global alliance in order to identify the genetic causes of rare diseases and develop effective treatments, following a three-stage approach: recognize, understand, cure.
Immune Deficiency Foundation
To improve the diagnosis, treatment and quality of life of people affected by primary immunodeficiency.
Ukrainian Association of Pediatric Immunology
Development of pediatric and clinical immunology in Ukraine. Raising awareness of inborn errors of immunity in Ukraine and rare immune diseases; Advocacy campaigns supporting patients with rare immune diseases and their treatment plans; Scientific research; Sharing knowledge about immunoprophylaxis; Advocacy campaigns supporting immunoprophylaxis.
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Syndromes Without A Name (SWAN) Australia
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