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A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency.

Abstract：

:Patients with a combined immunodeficiency characterized by normal numbers but impaired function of T and B cells had a homozygous p.Tyr20His substitution in transferrin receptor 1 (TfR1), encoded by TFRC. The substitution disrupts the TfR1 internalization motif, resulting in defective receptor endocytosis and markedly increased TfR1 expression on the cell surface. Iron citrate rescued the lymphocyte defects, and expression of wild-type but not mutant TfR1 rescued impaired transferrin uptake in patient-derived fibroblasts. Tfrc(Y20H/Y20H) mice recapitulated the immunological defects of patients. Despite the critical role of TfR1 in erythrocyte development and function, patients had only mild anemia and only slightly increased TfR1 expression in erythroid precursors. We show that STEAP3, a metalloreductase expressed in erythroblasts, associates with TfR1 and partially rescues transferrin uptake in patient-derived fibroblasts, suggesting that STEAP3 may provide an accessory TfR1 endocytosis signal that spares patients from severe anemia. These findings demonstrate the importance of TfR1 in adaptive immunity.

journal_name

Nat Genet

journal_title

Nature genetics

authors

Jabara HH,Boyden SE,Chou J,Ramesh N,Massaad MJ,Benson H,Bainter W,Fraulino D,Rahimov F,Sieff C,Liu ZJ,Alshemmari SH,Al-Ramadi BK,Al-Dhekri H,Arnaout R,Abu-Shukair M,Vatsayan A,Silver E,Ahuja S,Davies EG,Sola-Visne

doi

10.1038/ng.3465

subject

Has Abstract

pub_date

2016-01-01 00:00:00

pages

74-8

issue

1

eissn

1061-4036

issn

1546-1718

pii

ng.3465

journal_volume

48

pub_type

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