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

Jabara, Haifa H

A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency. [electronic resource] - Nature genetics Jan 2016 - 74-8 p. digital

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

1546-1718

10.1038/ng.3465 doi


Adaptive Immunity--genetics
Anemia--genetics
Animals
Antigens, CD--genetics
B-Lymphocytes--immunology
Cell Cycle Proteins
Cells, Cultured
Endocytosis
Female
Fibroblasts--physiology
Humans
Immunologic Deficiency Syndromes--genetics
Male
Mice, Inbred C57BL
Mice, Mutant Strains
Mutation, Missense
Oncogene Proteins--genetics
Oxidoreductases
Pedigree
Receptors, Transferrin--genetics