title: A causative relationship between mutant IFNgR1 alleles and impaired cellular response to IFNgamma in a compound heterozygous child.
authors.forename: F
authors.initials: F
authors.lastname: Altare
authors.forename: E
authors.initials: E
authors.lastname: Jouanguy
authors.forename: S
authors.initials: S
authors.lastname: Lamhamedi-Cherradi
authors.forename: M C
authors.initials: MC
authors.lastname: Fondanéche
authors.forename: C
authors.initials: C
authors.lastname: Fizame
authors.forename: F
authors.initials: F
authors.lastname: Ribiérre
authors.forename: G
authors.initials: G
authors.lastname: Merlin
authors.forename: Z
authors.initials: Z
authors.lastname: Dembic
authors.forename: R
authors.initials: R
authors.lastname: Schreiber
authors.forename: B
authors.initials: B
authors.lastname: Lisowska-Grospierre
authors.forename: A
authors.initials: A
authors.lastname: Fischer
authors.forename: E
authors.initials: E
authors.lastname: Seboun
authors.forename: J L
authors.initials: JL
authors.lastname: Casanova
mesh_terms: 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
chemical_list: D007371:Interferon-gamma; D012333:RNA, Messenger; D017471:Receptors, Interferon; D000096743:Interferon gamma Receptor