Ontology highlight
ABSTRACT:
SUBMITTER: Rae W
PROVIDER: S-EPMC5628267 | biostudies-literature | 2017 Sep
REPOSITORIES: biostudies-literature
Rae William W Ward Daniel D Mattocks Christopher J CJ Gao Yifang Y Pengelly Reuben J RJ Patel Sanjay V SV Ennis Sarah S Faust Saul N SN Williams Anthony P AP
Clinical & translational immunology 20170915 9
Primary immunodeficiencies (PIDs) are rare inborn errors of immunity that have a heterogeneous phenotype that can include severe susceptibility to life-threatening infections from multiple pathogens, unique sensitivity to a single pathogen, autoimmune/inflammatory (AI/I) disease, allergies and/or malignancy. We present a diverse cohort of monogenic PID patients with and without AI/I diseases who underwent clinical, genetic and immunological phenotyping. Novel pathogenic variants were identified ...[more]