Clinical and Immunological Characterization of Combined Immunodeficiency Due to TFRC Mutation in Eight Patients

PURPOSE: Combined immunodeficiency (CID), due to mutations in TFRC gene that encodes the transferrin receptors (TfR1), is a rare monogenic disorder. In this study, we further characterize the clinical and immunological phenotypes in a cohort of eight patients. METHODS: A retrospective review of clin...

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Vydáno v:J Clin Immunol
Hlavní autoři: Aljohani, Amal H., Al-Mousa, Hamoud, Arnaout, Rand, Al-Dhekri, Hasan, Mohammed, Reem, Alsum, Zobaida, Nicolas-Jilwan, Manal, Alrogi, Fayhan, Al-Muhsen, Saleh, Alazami, Anas M., Al-Saud, Bandar
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer US 2020
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Original Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7449781/
https://ncbi.nlm.nih.gov/pubmed/32851577
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10875-020-00851-1
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