Chaim M Roifman

Linda Vong 9 collaborations

Ori Scott 7 collaborations

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None None 4 collaborations

Jenny Garkaby 3 collaborations

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Rae Brager 3 collaborations

Nigel Sharfe 3 collaborations

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Catharina Schuetz 2 collaborations

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M Cecilia Poli 1 collaboration

Mary A Slatter 1 collaboration

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Luke Droney 1 collaboration

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Affiliations

Publications (20)

NF-κB pathway and the Goldilocks principle: Lessons from human disorders of immunity and inflammation.

Thymic Epithelial Cell Alterations and Defective Thymopoiesis Lead to Central and Peripheral Tolerance Perturbation in MHCII Deficiency.

Deep phenotypic characterization of the retinal dystrophy in patients with RNU4ATAC-associated Roifman syndrome.

Disruption of exon-bridging interactions between the minor and major spliceosomes results in alternative splicing around minor introns.

STAT1 gain-of-function heterozygous cell models reveal diverse interferon-signature gene transcriptional responses.

Homozygous duplication identified by whole genome sequencing causes LRBA deficiency.

RelB-deficient autoinflammatory pathology presents as interferonopathy, but in mice is interferon-independent.

A Unique Comprehensive Model to Screen Newborns for Severe Combined Immunodeficiency-An Ontario Single-Centre Experience Spanning 2013-2023.

Prevalence and Clinical Features of Inflammatory Bowel Diseases Associated With Monogenic Variants, Identified by Whole-Exome Sequencing in 1000 Children at a Single Center.

Case Report: Eosinophilic Esophagitis in a Patient With a Novel STAT1 Gain-of-Function Pathogenic Variant.

Ataxia Telangiectasia Diagnosed on Newborn Screening-Case Cohort of 5 Years' Experience.

NFκB pathway dysregulation due to reduced RelB expression leads to severe autoimmune disorders and declining immunity.

Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency.

Utilization of next-generation sequencing to define the role of heterozygous

Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.

New insights into minor splicing-a transcriptomic analysis of cells derived from TALS patients.

Morbidity in an adenosine deaminase-deficient patient during 27 years of enzyme replacement therapy.

DNA-Binding domain mutations confer severe outcome at an early age among STAT1 gain-of-function patients.

Combined immunodeficiency caused by a novel homozygous NFKB1 mutation.

The human Stat1 gain-of-function T385M mutation causes expansion of activated T-follicular helper/T-helper 1-like CD4 T cells and sex-biased autoimmunity in specific pathogen-free mice.

Réseau de co-auteurs