Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies
Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies
About this item
Full title
Author / Creator
Maffucci, Patrick , Chavez, Jose , Jurkiw, Thomas J , O'Brien, Patrick J , Abbott, Jordan K , Reynolds, Paul R , Worth, Austen , Notarangelo, Luigi D , Felgentreff, Kerstin , Cortes, Patricia , Boisson, Bertrand , Radigan, Lin , Cobat, Aurélie , Dinakar, Chitra , Ehlayel, Mohammad , Ben-Omran, Tawfeg , Gelfand, Erwin W , Casanova, Jean-Laurent and Cunningham-Rundles, Charlotte
Publisher
United States: American Society for Clinical Investigation
Journal title
Language
English
Formats
Publication information
Publisher
United States: American Society for Clinical Investigation
Subjects
More information
Scope and Contents
Contents
We report the molecular, cellular, and clinical features of 5 patients from 3 kindreds with biallelic mutations in the autosomal LIG1 gene encoding DNA ligase 1. The patients exhibited hypogammaglobulinemia, lymphopenia, increased proportions of circulating γδT cells, and erythrocyte macrocytosis. Clinical severity ranged from a mild antibody defic...
Alternative Titles
Full title
Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies
Authors, Artists and Contributors
Author / Creator
Chavez, Jose
Jurkiw, Thomas J
O'Brien, Patrick J
Abbott, Jordan K
Reynolds, Paul R
Worth, Austen
Notarangelo, Luigi D
Felgentreff, Kerstin
Cortes, Patricia
Boisson, Bertrand
Radigan, Lin
Cobat, Aurélie
Dinakar, Chitra
Ehlayel, Mohammad
Ben-Omran, Tawfeg
Gelfand, Erwin W
Casanova, Jean-Laurent
Cunningham-Rundles, Charlotte
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6264644
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6264644
Other Identifiers
ISSN
0021-9738
E-ISSN
1558-8238
DOI
10.1172/JCI99629
