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International Consensus Document (ICON): Common Variable Immunodeficiency Disorders

The journal of allergy and clinical immunology in practice (Cambridge, MA), 2016-01, Vol.4 (1), p.38-59

2016

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Treatment of Progressive Multifocal Leukoencephalopathy with Pembrolizumab

The New England journal of medicine, 2019-04, Vol.380 (17), p.1676-1677

2019

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Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects

Journal of allergy and clinical immunology, 2013-02, Vol.131 (2), p.477-485.e1

2013

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Therapeutic options for CTLA-4 insufficiency

Journal of allergy and clinical immunology, 2022-02, Vol.149 (2), p.736-746

2022

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B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans

Proceedings of the National Academy of Sciences - PNAS, 2009-08, Vol.106 (33), p.13945-13950

2009

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Flowcytometric phenotyping of common variable immunodeficiency

Cytometry. Part B, Clinical cytometry, 2008-09, Vol.74B (5), p.261-271

2008

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IL-21 restricts T follicular regulatory T cell proliferation through Bcl-6 mediated inhibition of responsiveness to IL-2

Nature communications, 2017-03, Vol.8 (1), p.14647-14647, Article 14647

2017

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Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice

Nature genetics, 2021-04, Vol.53 (4), p.500-510

2021

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Pembrolizumab for treatment of progressive multifocal leukoencephalopathy in primary immunodeficiency and/or hematologic malignancy: a case series of five patients

Journal of neurology, 2022-02, Vol.269 (2), p.973-981

2022

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Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2

Frontiers in immunology, 2019-03, Vol.10, p.297-297

2019

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Assessing the Functional Relevance of Variants in the IKAROS Family Zinc Finger Protein 1 ( IKZF1 ) in a Cohort of Patients With Primary Immunodeficiency

Frontiers in immunology, 2019-04, Vol.10, p.568-568

2019

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Editorial: Updates on the pathogenesis of common variable immunodeficiency (CVID)

Frontiers in immunology, 2023-01, Vol.13, p.1130418-1130418

2023

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The crossroads of autoimmunity and immunodeficiency: Lessons from polygenic traits and monogenic defects

Journal of allergy and clinical immunology, 2016-01, Vol.137 (1), p.3-17

2016

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Editorial: Interstitial Lung Disease in Primary Immunodeficiencies

Frontiers in immunology, 2021-07, Vol.12, p.699126-699126

2021

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Increased Risk for Malignancies in 131 Affected CTLA4 Mutation Carriers

Frontiers in immunology, 2018-09, Vol.9, p.2012-2012

2018

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Germline deletion of CIN85 in humans with X chromosome-linked antibody deficiency

The Journal of experimental medicine, 2018-05, Vol.215 (5), p.1327-1336

2018

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Human TRAF3 Adaptor Molecule Deficiency Leads to Impaired Toll-like Receptor 3 Response and Susceptibility to Herpes Simplex Encephalitis

Immunity (Cambridge, Mass.), 2010-09, Vol.33 (3), p.400-411

2010

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Deep Phenotyping of CD11c + B Cells in Systemic Autoimmunity and Controls

Frontiers in immunology, 2021-03, Vol.12, p.635615-635615

2021

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Impact of rituximab on immunoglobulin concentrations and B cell numbers after cyclophosphamide treatment in patients with ANCA-associated vasculitides

PloS one, 2012-05, Vol.7 (5), p.e37626

2012

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Establishing the Molecular Diagnoses in a Cohort of 291 Patients With Predominantly Antibody Deficiency by Targeted Next-Generation Sequencing: Experience From a Monocentric Study

Frontiers in immunology, 2021-12, Vol.12, p.786516

2021

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Case Series: Convalescent Plasma Therapy for Patients with COVID-19 and Primary Antibody Deficiency

Journal of clinical immunology, 2022-02, Vol.42 (2), p.253-265

2022

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Age-associated B cells predict impaired humoral immunity after COVID-19 vaccination in patients receiving immune checkpoint blockade

Nature communications, 2023-06, Vol.14 (1), p.3292-3292, Article 3292

2023

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Rescue of Cytokine Storm Due to HLH by Hemoadsorption in a CTLA4-Deficient Patient

Journal of clinical immunology, 2017-04, Vol.37 (3), p.273-276

2017

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International Consensus Document (ICON): Common Variable Immunodeficiency Disorders

Treatment of Progressive Multifocal Leukoencephalopathy with Pembrolizumab

Single-cell Atlas of common variable immunodeficiency shows germinal center-associated epigenetic dysregulation in B-cell responses

Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects

Therapeutic options for CTLA-4 insufficiency

B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans

Flowcytometric phenotyping of common variable immunodeficiency

IL-21 restricts T follicular regulatory T cell proliferation through Bcl-6 mediated inhibition of responsiveness to IL-2

Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice

Pembrolizumab for treatment of progressive multifocal leukoencephalopathy in primary immunodeficiency and/or hematologic malignancy: a case series of five patients

Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2

Assessing the Functional Relevance of Variants in the IKAROS Family Zinc Finger Protein 1 ( IKZF1 ) in a Cohort of Patients With Primary Immunodeficiency

Editorial: Updates on the pathogenesis of common variable immunodeficiency (CVID)

The crossroads of autoimmunity and immunodeficiency: Lessons from polygenic traits and monogenic defects

Editorial: Interstitial Lung Disease in Primary Immunodeficiencies

Increased Risk for Malignancies in 131 Affected CTLA4 Mutation Carriers

Germline deletion of CIN85 in humans with X chromosome-linked antibody deficiency

Human TRAF3 Adaptor Molecule Deficiency Leads to Impaired Toll-like Receptor 3 Response and Susceptibility to Herpes Simplex Encephalitis

The EUROclass trial: defining subgroups in common variable immunodeficiency

Deep Phenotyping of CD11c + B Cells in Systemic Autoimmunity and Controls

Impact of rituximab on immunoglobulin concentrations and B cell numbers after cyclophosphamide treatment in patients with ANCA-associated vasculitides

Establishing the Molecular Diagnoses in a Cohort of 291 Patients With Predominantly Antibody Deficiency by Targeted Next-Generation Sequencing: Experience From a Monocentric Study

Case Series: Convalescent Plasma Therapy for Patients with COVID-19 and Primary Antibody Deficiency

Age-associated B cells predict impaired humoral immunity after COVID-19 vaccination in patients receiving immune checkpoint blockade

Rescue of Cytokine Storm Due to HLH by Hemoadsorption in a CTLA4-Deficient Patient

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