Deletion of the entire interferon-γ receptor 1 gene causing complete deficiency in three related pat...
Deletion of the entire interferon-γ receptor 1 gene causing complete deficiency in three related patients
About this item
Full title
Author / Creator
Publisher
New York: Springer US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Springer US
Subjects
More information
Scope and Contents
Contents
Purpose
Complete interferon-γ receptor 1 (IFN-γR1) deficiency is a primary immunodeficiency causing predisposition to severe infection due to intracellular pathogens. Only 36 cases have been reported worldwide. The purpose of this article is to describe a large novel deletion found in 3 related cases, which resulted in the complete removal of th...
Alternative Titles
Full title
Deletion of the entire interferon-γ receptor 1 gene causing complete deficiency in three related patients
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4792359
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4792359
Other Identifiers
ISSN
0271-9142
E-ISSN
1573-2592
DOI
10.1007/s10875-016-0244-y
