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  1. Book ; Online: Continued Fascination - A Tribute to a Giant in Immunology, Dr. William E. Paul

    Zhu, Jinfang / Milner, Joshua D.

    2019  

    Keywords Medicine ; Immunology ; William E. Paul ; Interleukin-4 ; T cell differentiation ; B cell activation ; Immune homeostasis ; Mast Cells
    Size 1 electronic resource (147 pages)
    Publisher Frontiers Media SA
    Document type Book ; Online
    Note English ; Open Access
    HBZ-ID HT021231459
    ISBN 9782889458769 ; 2889458768
    Database ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

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  2. Article ; Online: ERBIN and phosphoglucomutase 3 deficiency.

    Milner, Joshua D

    Current opinion in immunology

    2023  Volume 84, Page(s) 102353

    Abstract: ERBIN and phosphoglucomutase 3 (PGM3) mutations both lead to rare primary atopic disorders characterized by allergic disease and connective tissue abnormalities, though each disorder has its own rather unique pattern of multisystem presentations. Pathway ...

    Abstract ERBIN and phosphoglucomutase 3 (PGM3) mutations both lead to rare primary atopic disorders characterized by allergic disease and connective tissue abnormalities, though each disorder has its own rather unique pattern of multisystem presentations. Pathway studies show how ERBIN mutations allow for enhanced TGFb signaling, and prevent STAT3 from negative-regulating TGFb signaling. This likely explains many elements of clinical overlap between disorders of STAT3 and TGFb signaling. The excessive TGFb signaling leading to increased IL-4 receptor expression also provides the rationale for precision-based therapy blocking the IL-4 receptor to treat the atopic disease. The mechanism by which PGM3 deficiency leads to atopic phenotypes is not well understood, nor is the broad variability in disease penetrance and expressivity, though preliminary studies suggest an overlap with IL-6 receptor signaling defects.
    Language English
    Publishing date 2023-06-25
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 1035767-1
    ISSN 1879-0372 ; 0952-7915
    ISSN (online) 1879-0372
    ISSN 0952-7915
    DOI 10.1016/j.coi.2023.102353
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Primary Atopic Disorders.

    Milner, Joshua D

    Annual review of immunology

    2020  Volume 38, Page(s) 785–808

    Abstract: Primary atopic disorders describes a series of monogenic diseases that have allergy- or atopic effector-related symptoms as a substantial feature. The underlying pathogenic genetic lesions help illustrate fundamental pathways in atopy, opening up ... ...

    Abstract Primary atopic disorders describes a series of monogenic diseases that have allergy- or atopic effector-related symptoms as a substantial feature. The underlying pathogenic genetic lesions help illustrate fundamental pathways in atopy, opening up diagnostic and therapeutic options for further study in those patients, but ultimately for common allergic diseases as well. Key pathways affected in these disorders include T cell receptor and B cell receptor signaling, cytokine signaling, skin barrier function, and mast cell function, as well as pathways that have not yet been elucidated. While comorbidities such as classically syndromic presentation or immune deficiency are often present, in some cases allergy alone is the presenting symptom, suggesting that commonly encountered allergic diseases exist on a spectrum of monogenic and complex genetic etiologies that are impacted by environmental risk factors.
    MeSH term(s) B-Lymphocytes/immunology ; B-Lymphocytes/metabolism ; Biomarkers ; Cytokines/metabolism ; Disease Management ; Disease Susceptibility ; Environment ; Genetic Predisposition to Disease ; Humans ; Hypersensitivity, Immediate/diagnosis ; Hypersensitivity, Immediate/etiology ; Hypersensitivity, Immediate/metabolism ; Mast Cells/immunology ; Mast Cells/metabolism ; T-Lymphocyte Subsets/immunology ; T-Lymphocyte Subsets/metabolism
    Chemical Substances Biomarkers ; Cytokines
    Language English
    Publishing date 2020-03-03
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Intramural ; Review
    ZDB-ID 604953-9
    ISSN 1545-3278 ; 0732-0582
    ISSN (online) 1545-3278
    ISSN 0732-0582
    DOI 10.1146/annurev-immunol-042718-041553
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article: TCR Signaling Abnormalities in Human Th2-Associated Atopic Disease.

    Milner, Joshua D

    Frontiers in immunology

    2018  Volume 9, Page(s) 719

    Abstract: Stimulation of naïve CD4 T cells with weak T cell receptor agonists even in the absence of T helper-skewing cytokines can result in IL-4 production which can drive a Th2 response. Evidence for ... ...

    Abstract Stimulation of naïve CD4 T cells with weak T cell receptor agonists even in the absence of T helper-skewing cytokines can result in IL-4 production which can drive a Th2 response. Evidence for the
    MeSH term(s) Actins/metabolism ; Biomarkers ; Cells, Cultured ; Coculture Techniques ; Cytoskeleton/metabolism ; Dendritic Cells/immunology ; Dendritic Cells/metabolism ; Humans ; Hypersensitivity, Immediate/genetics ; Hypersensitivity, Immediate/immunology ; Hypersensitivity, Immediate/metabolism ; Leukocytes, Mononuclear/immunology ; Leukocytes, Mononuclear/metabolism ; Lymphocyte Activation/genetics ; Lymphocyte Activation/immunology ; Mutation ; Phenotype ; Receptors, Antigen, T-Cell/genetics ; Receptors, Antigen, T-Cell/metabolism ; Signal Transduction ; Th2 Cells/immunology ; Th2 Cells/metabolism
    Chemical Substances Actins ; Biomarkers ; Receptors, Antigen, T-Cell
    Language English
    Publishing date 2018-04-16
    Publishing country Switzerland
    Document type Journal Article ; Research Support, N.I.H., Intramural ; Review
    ZDB-ID 2606827-8
    ISSN 1664-3224
    ISSN 1664-3224
    DOI 10.3389/fimmu.2018.00719
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article: Learning from Job: A Rare Genetic Disease and Lessons of Biblical Proportions.

    Milner, Joshua D

    Rambam Maimonides medical journal

    2018  Volume 9, Issue 1

    Abstract: Dominant negative mutations in STAT3, a critical signaling molecule and transcription factor in multiple organ systems, lead to a rare monogenic disease called the STAT3 loss-of-function, autosomal dominant hyper-IgE syndrome (STAT3LOF AD-HIES). The ... ...

    Abstract Dominant negative mutations in STAT3, a critical signaling molecule and transcription factor in multiple organ systems, lead to a rare monogenic disease called the STAT3 loss-of-function, autosomal dominant hyper-IgE syndrome (STAT3LOF AD-HIES). The original name for this syndrome, Job's syndrome, was derived from the observation that patients had a propensity to develop skin boils, reminiscent of the affliction cast upon the biblical Job. Many fascinating observations have been made regarding the pathogenesis of the disease and the role STAT3 plays in human health and disease. Additionally, quite a few phenotypic descriptions from the Book of Job are similar to those seen in patients with STAT3LOF AD-HIES, beyond just the boils. This complex multisystem genetic disorder is a challenge clinically and scientifically, but it also brings into question how we approach genetic syndromes beyond just the technical aspects of research and treatment.
    Language English
    Publishing date 2018-01-29
    Publishing country Israel
    Document type Journal Article ; Review
    ZDB-ID 2573657-7
    ISSN 2076-9172
    ISSN 2076-9172
    DOI 10.5041/RMMJ.10326
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Elevated IgE from attenuated CARD11 signaling: lessons from atopic mice and humans.

    Pomerantz, Joel L / Milner, Joshua D / Snow, Andrew L

    Current opinion in immunology

    2022  Volume 79, Page(s) 102255

    Abstract: CARD11 encodes a large scaffold protein responsible for integrating antigen-receptor engagement with downstream signaling to NF-kB and other outputs in lymphocytes. Over the past 10 years, several human-inborn errors of immunity have been linked to ... ...

    Abstract CARD11 encodes a large scaffold protein responsible for integrating antigen-receptor engagement with downstream signaling to NF-kB and other outputs in lymphocytes. Over the past 10 years, several human-inborn errors of immunity have been linked to pathogenic CARD11 mutations. Most recently, severe atopic patients were discovered that carried heterozygous dominant-negative CARD11 mutations. Here, we review the mechanistic connections between attenuated CARD11 signaling, elevated IgE, and atopy, comparing and contrasting key insights from both human patients and murine models. Continued investigation of abnormal CARD11 signaling in both contexts should inform novel therapeutic strategies to combat allergic pathogenesis.
    MeSH term(s) Humans ; Mice ; Animals ; CARD Signaling Adaptor Proteins ; Guanylate Cyclase/genetics ; Guanylate Cyclase/metabolism ; Signal Transduction/genetics ; NF-kappa B/genetics ; NF-kappa B/metabolism ; Receptors, Antigen/metabolism
    Chemical Substances CARD Signaling Adaptor Proteins ; Guanylate Cyclase (EC 4.6.1.2) ; NF-kappa B ; Receptors, Antigen ; CARD11 protein, human (EC 4.6.1.2) ; Card11 protein, mouse
    Language English
    Publishing date 2022-11-02
    Publishing country England
    Document type Journal Article ; Review ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 1035767-1
    ISSN 1879-0372 ; 0952-7915
    ISSN (online) 1879-0372
    ISSN 0952-7915
    DOI 10.1016/j.coi.2022.102255
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: The Child with Elevated IgE and Infection Susceptibility.

    Freeman, Alexandra F / Milner, Joshua D

    Current allergy and asthma reports

    2020  Volume 20, Issue 11, Page(s) 65

    Abstract: Purpose of review: Over the last 13 years, the genetic etiologies have been determined for multiple conditions causing elevated serum IgE, infection susceptibilities, and variable other features. In this review, we discuss the clinical presentation, ... ...

    Abstract Purpose of review: Over the last 13 years, the genetic etiologies have been determined for multiple conditions causing elevated serum IgE, infection susceptibilities, and variable other features. In this review, we discuss the clinical presentation, laboratory features, and genetics of these diseases caused by mutations in STAT3, DOCK8, PGM3, IL6ST, ZNF341, IL6R, IL6ST, CARD11, and CARD14, with particular focus given to STAT3LOF and DOCK8 deficiency.
    Recent findings: Defining the phenotype of each of these syndromes with high IgE and infection susceptibility shows that some have a pronounced connective tissue phenotype such as STAT3LOF and IL6ST deficiency, some have worse viral susceptibility such as DOCK8 deficiency and heterozygous LOF CARD11, and some have more severe allergy and eczema such as LOF CARD14. Studying these distinct but overlapping monogenic diseases will allow a better understanding of more common disease processes such as allergy, eczema, infection susceptibility, scoliosis, and aneurysm.
    MeSH term(s) Child ; Disease Susceptibility/immunology ; Female ; Humans ; Immunoglobulin E/adverse effects ; Immunoglobulin E/blood ; Infections/immunology ; Male
    Chemical Substances Immunoglobulin E (37341-29-0)
    Keywords covid19
    Language English
    Publishing date 2020-08-24
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Intramural ; Review
    ZDB-ID 2057370-4
    ISSN 1534-6315 ; 1529-7322
    ISSN (online) 1534-6315
    ISSN 1529-7322
    DOI 10.1007/s11882-020-00964-y
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: PLAID: a Syndrome of Complex Patterns of Disease and Unique Phenotypes.

    Milner, Joshua D

    Journal of clinical immunology

    2015  Volume 35, Issue 6, Page(s) 527–530

    Abstract: PLCG2 associated antibody deficiency and immune dysregulation (PLAID) is a complex dominantly inherited disease characterized almost universally by cold urticaria, and variably by recurrent bacterial infection, autoimmunty and skin granuloma formation. ... ...

    Abstract PLCG2 associated antibody deficiency and immune dysregulation (PLAID) is a complex dominantly inherited disease characterized almost universally by cold urticaria, and variably by recurrent bacterial infection, autoimmunty and skin granuloma formation. Several striking phenotypes can emerge from this disease, and the pathophysiology leads to a complex mix of loss and gain of function in cellular signaling. This review discusses the key phenotypic characteristics and pathophysiologic observations seen in PLAID, and contrasts PLAID to several related disorders in order to best contextualize this fascinating disease.
    MeSH term(s) Antibodies/genetics ; Autoimmunity/genetics ; Bacterial Infections/immunology ; Granuloma/immunology ; Humans ; Phenotype ; Signal Transduction/genetics ; Syndrome ; Urticaria/immunology
    Chemical Substances Antibodies
    Language English
    Publishing date 2015-07-25
    Publishing country Netherlands
    Document type Journal Article ; Research Support, N.I.H., Intramural ; Review
    ZDB-ID 779361-3
    ISSN 1573-2592 ; 0271-9142
    ISSN (online) 1573-2592
    ISSN 0271-9142
    DOI 10.1007/s10875-015-0177-x
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  9. Article ; Online: Gene-environment interactions in primary atopic disorders.

    Sacco, Keith A / Milner, Joshua D

    Current opinion in immunology

    2019  Volume 60, Page(s) 148–155

    Abstract: Environmental factors modify disease presentation and severity in allergic disorders. Primary atopic disorders (PADs) are a heterogenous group of single gene disorders that lead to significant atopic and allergic disease manifestations. However, a number ...

    Abstract Environmental factors modify disease presentation and severity in allergic disorders. Primary atopic disorders (PADs) are a heterogenous group of single gene disorders that lead to significant atopic and allergic disease manifestations. However, a number of these monogenic diseases have variable penetrance suggesting that gene-gene and/or gene-environment interactions could modulate the clinical phenotype. Environmental factors such as diet, the microbiome at the epithelial-environment interface, the presence and/or extent of infection, and psychologic stress can alter disease phenotypic expression of allergic diseases, and PADs provide discrete contexts in which to understand these influences. We outline how gene-environment interactions likely contribute to a variable penetrance and expressivity in PADs. Dietary modifications of both macronutrients and/or micronutrients alter T-cell metabolism and may influence effector T-cell function. The mucosal microbiome may affect local inflammation and may remotely influence regulatory elements, while psychologic stress can affect mast cell and other allergic effector cell function. Understanding gene-environment interactions in PADs can hopefully provide a foundation for interrogating gene-environment interactions to common allergic disorders, and also present opportunities for personalized interventions based on the altered pathways and environmental influences in affected individuals.
    MeSH term(s) Dermatitis, Atopic/etiology ; Dermatitis, Atopic/metabolism ; Disease Susceptibility ; Energy Metabolism ; Environment ; Environmental Exposure/adverse effects ; Gene-Environment Interaction ; Humans ; Hypersensitivity, Immediate/etiology ; Hypersensitivity, Immediate/metabolism ; Mast Cells/immunology ; Mast Cells/metabolism ; Microbiota ; Nutritional Status ; Phenotype ; Severe Combined Immunodeficiency/etiology ; Severe Combined Immunodeficiency/metabolism ; Stress, Physiological ; T-Lymphocyte Subsets/immunology ; T-Lymphocyte Subsets/metabolism
    Language English
    Publishing date 2019-07-11
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Intramural ; Review
    ZDB-ID 1035767-1
    ISSN 1879-0372 ; 0952-7915
    ISSN (online) 1879-0372
    ISSN 0952-7915
    DOI 10.1016/j.coi.2019.06.002
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article: Splice site and

    Chou, Sophia R / Bailey, Alexis C / Baysac, Kathleen / Oler, Andrew J / Milner, Joshua D / Ombrello, Michael J

    medRxiv : the preprint server for health sciences

    2024  

    Abstract: Background: Phospholipase Cγ2 (PLCγ2) is an important signaling molecule that receives and transmits signals from various cell surface receptors in most hematopoietic lineages. Variants of : Objective: To identify genetic lesions that cause PLAID by ... ...

    Abstract Background: Phospholipase Cγ2 (PLCγ2) is an important signaling molecule that receives and transmits signals from various cell surface receptors in most hematopoietic lineages. Variants of
    Objective: To identify genetic lesions that cause PLAID by combining RNA sequencing of full-length
    Methods: We studied nine probands with antibody deficiency and a positive evaporative cooling test, together with two known CU-PLAID patients and three healthy subjects. Illumina sequencing was performed on full-length
    Results: Two probands expressed novel alternative transcripts of
    Conclusion: In addition to autosomal dominant genomic deletions,
    Language English
    Publishing date 2024-03-19
    Publishing country United States
    Document type Preprint
    DOI 10.1101/2024.03.16.24304180
    Database MEDical Literature Analysis and Retrieval System OnLINE

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