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Article

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

Journal of clinical immunology - 1 Nov 2020

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

Abstract excerpt

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 clinical and immunological features of patients diagnosed with a TFRC gene mutation between 2015 and 2019 in three...

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Identifiers

PMID: 32851577
DOI: 10.1007/s10875-020-00851-1
PMCID: PMC7449781

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