A causative relationship between mutant IFNgR1 alleles and impaired cellular response to IFNgamma in a compound heterozygous child.
Altare
F
F
Jouanguy
E
E
Lamhamedi-Cherradi
S
S
Fondanéche
M C
MC
Fizame
C
C
Ribiérre
F
F
Merlin
G
G
Dembic
Z
Z
Schreiber
R
R
Lisowska-Grospierre
B
B
Fischer
A
A
Seboun
E
E
Casanova
J L
JL
D000483:Alleles; D017398:Alternative Splicing; D002675:Child, Preschool; D005347:Fibroblasts / Q000187:drug effects; D006579:Heterozygote; D006801:Humans; D007371:Interferon-gamma / Q000494:pharmacology*; D009154:Mutation; D012333:RNA, Messenger / Q000235:genetics; D017471:Receptors, Interferon / Q000235:genetics*; D000096743:Interferon gamma Receptor
D007371:Interferon-gamma; D012333:RNA, Messenger; D017471:Receptors, Interferon; D000096743:Interferon gamma Receptor