Ontology highlight
ABSTRACT:
SUBMITTER: Maffucci P
PROVIDER: S-EPMC6264644 | biostudies-literature | 2018 Dec
REPOSITORIES: biostudies-literature
Maffucci Patrick P Chavez Jose J Jurkiw Thomas J TJ O'Brien Patrick J PJ Abbott Jordan K JK Reynolds Paul R PR Worth Austen A Notarangelo Luigi D LD Felgentreff Kerstin K Cortes Patricia P Boisson Bertrand B Radigan Lin L Cobat Aurélie A Dinakar Chitra C Ehlayel Mohammad M Ben-Omran Tawfeg T Gelfand Erwin W EW Casanova Jean-Laurent JL Cunningham-Rundles Charlotte C
The Journal of clinical investigation 20181105 12
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 deficiency to a combined immunodeficiency requiring hematopoietic stem cell transplantation. Using engineered LIG1-deficient cell lines, we demonstrated ch ...[more]