Rae Brager
Hamilton, ON, Canada
Last Updated: 09/26/2026
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Found 11 publications
Expanding Phenotype of GINS1 Deficiency: A Case Report and Review of the Literature.
Journal: Clinical genetics
Published: December 04, 2025
Delayed diagnosis of STAT1 gain-of-function variant in a patient with multiple endocrine autoimmunity and recurrent fungal infections.
Journal: Endocrinology, diabetes & metabolism case reports
Published: April 26, 2025
APDS in a 3-year-old boy presenting with EBV viremia and hodgkin lymphoma associated with a novel germline heterozygous variant in PIK3CD and with characteristic immune phenotype but no upregulation of the T cell mTOR pathway.
Journal: Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology
Published: February 21, 2025
Lipopolysaccharide-responsive and beige-like anchor protein (LRBA) functional deficiency caused by biallelic LRBA missense variants characterized by Evans syndrome or colitis.
Journal: The Journal of allergy and clinical immunology
Published: October 04, 2024
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.
Journal: American journal of human genetics
Published: July 24, 2024
A multimorphic variant in ThPOK causes an inborn error of immunity with T cell defects and fibrosis.
A multimorphic variant in ThPOK causes an inborn error of immunity with T cell defects and fibrosis.
Journal: The Journal of experimental medicine
Published: July 08, 2024
A Unique Comprehensive Model to Screen Newborns for Severe Combined Immunodeficiency-An Ontario Single-Centre Experience Spanning 2013-2023.
Journal: Genes
Published: June 07, 2024
DNA-Binding domain mutations confer severe outcome at an early age among STAT1 gain-of-function patients.
Journal: Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology
Published: August 26, 2021
Neonatal abstinence syndrome is a potential cause of low TREC copy number.
Journal: Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology
Published: June 22, 2021
Effect of different conditioning regimens on survival and engraftment for children with hemophagocytic lymphohistiocytosis undergoing allogeneic hematopoeitic stem cell transplantation: A single institution experience.
Journal: Pediatric blood & cancer
Published: February 20, 2020
Ataxia Telangiectasia Diagnosed on Newborn Screening-Case Cohort of 5 Years' Experience.
Journal: Frontiers in immunology
Published: August 30, 2019
Showing 1-11 of 11
Last Updated: 09/26/2026