Ontology highlight
ABSTRACT:
SUBMITTER: Cottineau J
PROVIDER: S-EPMC5409070 | biostudies-literature | 2017 May
REPOSITORIES: biostudies-literature
Cottineau Julien J Kottemann Molly C MC Lach Francis P FP Kang Young-Hoon YH Vély Frédéric F Deenick Elissa K EK Lazarov Tomi T Gineau Laure L Wang Yi Y Farina Andrea A Chansel Marie M Lorenzo Lazaro L Piperoglou Christelle C Ma Cindy S CS Nitschke Patrick P Belkadi Aziz A Itan Yuval Y Boisson Bertrand B Jabot-Hanin Fabienne F Picard Capucine C Bustamante Jacinta J Eidenschenk Céline C Boucherit Soraya S Aladjidi Nathalie N Lacombe Didier D Barat Pascal P Qasim Waseem W Hurst Jane A JA Pollard Andrew J AJ Uhlig Holm H HH Fieschi Claire C Michon Jean J Bermudez Vladimir P VP Abel Laurent L de Villartay Jean-Pierre JP Geissmann Frédéric F Tangye Stuart G SG Hurwitz Jerard J Vivier Eric E Casanova Jean-Laurent JL Smogorzewska Agata A Jouanguy Emmanuelle E
The Journal of clinical investigation 20170417 5
Inborn errors of DNA repair or replication underlie a variety of clinical phenotypes. We studied 5 patients from 4 kindreds, all of whom displayed intrauterine growth retardation, chronic neutropenia, and NK cell deficiency. Four of the 5 patients also had postnatal growth retardation. The association of neutropenia and NK cell deficiency, which is unusual among primary immunodeficiencies and bone marrow failures, was due to a blockade in the bone marrow and was mildly symptomatic. We discovered ...[more]