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PMID: 9497247 Published · ppublish English Case Reports Letter

A causative relationship between mutant IFNgR1 alleles and impaired cellular response to IFNgamma in a compound heterozygous child.

American journal of human genetics ·Vol. 62 ·No. 3 ·1998-03-00 ·Pages 723-6

Altare F, Jouanguy E, Lamhamedi-Cherradi S, Fondanéche MC, Fizame C, Ribiérre F, Merlin G, Dembic Z, Schreiber R, Lisowska-Grospierre B, Fischer A, Seboun E, Casanova JL

Abstract

暂无摘要

MeSH Terms
Alleles Alternative Splicing Child, Preschool Fibroblasts/drug effects Heterozygote Humans Interferon-gamma/pharmacology Mutation RNA, Messenger/genetics Receptors, Interferon/genetics
Chemicals
RNA, Messenger Receptors, Interferon interferon gamma receptor Interferon-gamma
Authors & Affiliations
13 authors, click to expand affiliations / ORCID
Altare F
Jouanguy E
Lamhamedi-Cherradi S
Fondanéche M C
Fizame C
Ribiérre F
Merlin G
Dembic Z
Schreiber R
Lisowska-Grospierre B
Fischer A
Seboun E
Casanova J L
Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
DOI
10.1086/301750
Published
1998-03-00
Pages
723-6
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1376945
Subset
IM
External Links
PubMed source DOI: 10.1086/301750 PMC Full Text View journal details
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