Publications by authors named "Rae Brager"

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Lipopolysaccharide-responsive and beige-like anchor protein (LRBA) functional deficiency caused by biallelic LRBA missense variants characterized by Evans syndrome or colitis.
Samuel C C Chiang, Li Yang, Erika Owsley, Ammar Husami, Nagako Akeno, Rae Brager

J Allergy Clin Immunol· August 2025

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A multimorphic variant in ThPOK causes an inborn error of immunity with T cell defects and fibrosis.
Maryam Vaseghi-Shanjani, Mehul Sharma, Pariya Yousefi, Simran Samra, Kaitlin U Laverty, Rae Brager

J Exp Med· August 2025

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Delayed diagnosis of STAT1 gain-of-function variant in a patient with multiple endocrine autoimmunity and recurrent fungal infections.
Sydney Sparanese, Rae Brager, David Fahmy, Jenny Garkaby

Endocrinol Diabetes Metab Case Rep· July 2025

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DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.
Ivana Lessel, Anja Baresic, Ivan K Chinn, Jonathan May, Anu Goenka, Rae Brager

Am J Hum Genet· February 2025

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A Unique Comprehensive Model to Screen Newborns for Severe Combined Immunodeficiency-An Ontario Single-Centre Experience Spanning 2013-2023.
Abdulrahman Al Ghamdi, Jessica Willett Pachul, Azhar Al Shaqaq, Meghan Fraser, Abby Watts-Dickens, Rae Brager

Genes (Basel)· July 2024

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DNA-Binding domain mutations confer severe outcome at an early age among STAT1 gain-of-function patients.
Ori Scott, Harjit Dadi, Linda Vong, Yehonatan Pasternak, Jenny Garkaby, Rae Brager

Pediatr Allergy Immunol· January 2022

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Neonatal abstinence syndrome is a potential cause of low TREC copy number.
Adil Adatia, Ling Ling, Pranesh Chakraborty, Lauren Brick, Rae Brager

Allergy Asthma Clin Immunol· November 2021

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Ataxia Telangiectasia Diagnosed on Newborn Screening-Case Cohort of 5 Years' Experience.
Amarilla B Mandola, Brenda Reid, Raga Sirror, Rae Brager, Peter Dent

Front Immunol· November 2020

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Effect of different conditioning regimens on survival and engraftment for children with hemophagocytic lymphohistiocytosis undergoing allogeneic hematopoeitic stem cell transplantation: A single institution experience.
Salah Ali, Donna A Wall, Muhammad Ali, Kuang-Yueh Chiang, Ahmed Naqvi, Rae Brager

Pediatr Blood Cancer· September 2020

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