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

Journal of allergy and clinical immunology, 2019-05, Vol.143 (5), p.1688-1701

2019

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Recent advances in understanding and managing adenosine deaminase and purine nucleoside phosphorylase deficiencies

Current opinion in allergy and clinical immunology, 2013-12, Vol.13 (6), p.630-638

2013

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Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease

Nature communications, 2017-04, Vol.8 (1), p.14816-14816, Article 14816

2017

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Fatal combined immunodeficiency associated with heterozygous mutation in STAT1

Journal of allergy and clinical immunology, 2014-03, Vol.133 (3), p.807-817

2014

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Pulmonary alveolar proteinosis in patients with adenosine deaminase deficiency

Journal of allergy and clinical immunology, 2012-06, Vol.129 (6), p.1588-1593

2012

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Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing

Nature communications, 2015-11, Vol.6 (1), p.8718-8718, Article 8718

2015

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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

Frontiers in immunology, 2023-05, Vol.14, p.1183273-1183273

2023

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Omenn syndrome: Inflammation in leaky severe combined immunodeficiency

Journal of allergy and clinical immunology, 2008-12, Vol.122 (6), p.1082-1086

2008

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Combined immunodeficiency caused by a novel homozygous NFKB1 mutation

Journal of allergy and clinical immunology, 2021-02, Vol.147 (2), p.727-733.e2

2021

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

Nucleic acids research, 2021-04, Vol.49 (6), p.3524

2021

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Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency

Frontiers in immunology, 2011, Vol.2, p.54-54

2011

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Defining combined immunodeficiency

Journal of allergy and clinical immunology, 2012-07, Vol.130 (1), p.177-183

2012

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

Journal of allergy and clinical immunology, 2023-11, Vol.152 (5), p.1261-1272

2023

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Defining the biological responses of IL-6 by the study of a novel IL-6 receptor chain immunodeficiency

Journal of allergy and clinical immunology, 2020-03, Vol.145 (3), p.1011-1015.e6

2020

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

Gastroenterology (New York, N.Y. 1943), 2020-06, Vol.158 (8), p.2208-2220

2020

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Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations

Journal of allergy and clinical immunology, 2018-02, Vol.141 (2), p.704-717.e5

2018

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

Eye (London), 2023-12, Vol.37 (18), p.3734-3742

2023

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The effects of RelB deficiency on lymphocyte development and function

Journal of autoimmunity, 2015-12, Vol.65, p.90-100

2015

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

Journal of autoimmunity, 2023-05, Vol.137, p.102946-102946, Article 102946

2023

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

Frontiers in immunology, 2019-12, Vol.10, p.2940-2940

2019

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Primary immunodeficiency diseases: An update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee

Journal of allergy and clinical immunology, 2007-10, Vol.120 (4), p.776-794

2007

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Omenn syndrome is associated with mutations in DNA ligase IV

Journal of allergy and clinical immunology, 2008-12, Vol.122 (6), p.1219-1220

2008

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

Pediatric allergy and immunology, 2022-01, Vol.33 (1), p.e13694-n/a

2022

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Newborn screening for severe combined immunodeficiency: a primer for clinicians

Canadian Medical Association journal (CMAJ), 2017-12, Vol.189 (50), p.E1551

2017

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Bone marrow transplantation for monoallelic signal transducer and activator of transcription 1 deficiency

Journal of allergy and clinical immunology, 2016-08, Vol.138 (2), p.612-615.e1

2016

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

Recent advances in understanding and managing adenosine deaminase and purine nucleoside phosphorylase deficiencies

Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease

Fatal combined immunodeficiency associated with heterozygous mutation in STAT1

Pulmonary alveolar proteinosis in patients with adenosine deaminase deficiency

Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing

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

Omenn syndrome: Inflammation in leaky severe combined immunodeficiency

Combined immunodeficiency caused by a novel homozygous NFKB1 mutation

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

Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency

Defining combined immunodeficiency

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

Defining the biological responses of IL-6 by the study of a novel IL-6 receptor chain immunodeficiency

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

Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations

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

The effects of RelB deficiency on lymphocyte development and function

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

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

Primary immunodeficiency diseases: An update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee

Omenn syndrome is associated with mutations in DNA ligase IV

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

Newborn screening for severe combined immunodeficiency: a primer for clinicians

Bone marrow transplantation for monoallelic signal transducer and activator of transcription 1 deficiency

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