id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
cord-030897-c88tjrai	Aljohani, Amal H.	Clinical and Immunological Characterization of Combined Immunodeficiency Due to TFRC Mutation in Eight Patients	2020-08-27		.txt	text/plain	3484	216	52	PURPOSE: Combined immunodeficiency (CID), due to mutations in TFRC gene that encodes the transferrin receptors (TfR1), is a rare monogenic disorder. Nevertheless, the high rate of consanguineous marriages in the Saudi population [7] and the availability of advanced molecular genetic testing provided us with the opportunity to identify and review a relatively large number of patients with combined immunodeficiency due to mutated TFRC in great detail. The observed neurological involvement in some of the patients in the form of developmental delay, milestone regression, and optic atrophy could be related to recurrent infections and prolonged hospitalization, or it could be part of the disease itself, as mitochondrial iron supply may be affected by this mutation [11] [12] [13] [14] [15] [16] . Patients with WAS and TFRC gene mutations tend to have recurrent infections and thrombocytopenia. The lymphocyte requirement of transferrin and impaired TfR signaling role impaired lymphocyte proliferation to PHA in patients with TFRC gene mutations [4, 17] .	./cache/cord-030897-c88tjrai.txt	./txt/cord-030897-c88tjrai.txt