TY  - GEN
AU  - Jouanguy,E
AU  - Dupuis,S
AU  - Pallier,A
AU  - Döffinger,R
AU  - Fondanèche,M C
AU  - Fieschi,C
AU  - Lamhamedi-Cherradi,S
AU  - Altare,F
AU  - Emile,J F
AU  - Lutz,P
AU  - Bordigoni,P
AU  - Cokugras,H
AU  - Akcakaya,N
AU  - Landman-Parker,J
AU  - Donnadieu,J
AU  - Camcioglu,Y
AU  - Casanova,J L
TI  - In a novel form of IFN-gamma receptor 1 deficiency, cell surface receptors fail to bind IFN-gamma
SN  - 0021-9738
PY  - 2000///0612
KW  - Adolescent
KW  - Adult
KW  - Animals
KW  - Antibodies, Monoclonal
KW  - Base Sequence
KW  - Binding Sites
KW  - genetics
KW  - Cell Membrane
KW  - immunology
KW  - Child
KW  - Child, Preschool
KW  - DNA Primers
KW  - Female
KW  - Humans
KW  - Immunologic Deficiency Syndromes
KW  - Interferon-gamma
KW  - metabolism
KW  - Ligands
KW  - Male
KW  - Mice
KW  - Mutation
KW  - Mutation, Missense
KW  - Protein Structure, Tertiary
KW  - Receptors, Interferon
KW  - deficiency
KW  - Sequence Deletion
KW  - Interferon gamma Receptor
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1172/JCI9166
ER  -