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  1. Article ; Online: Chronic Lung Disease in Primary Antibody Deficiency: Diagnosis and Management.

    Maglione, Paul J

    Immunology and allergy clinics of North America

    2020  Volume 40, Issue 3, Page(s) 437–459

    Abstract: Chronic lung disease is a complication of primary antibody deficiency (PAD) associated with significant morbidity and mortality. Manifestations of lung disease in PAD are numerous. Thoughtful application of diagnostic approaches is imperative to ... ...

    Abstract Chronic lung disease is a complication of primary antibody deficiency (PAD) associated with significant morbidity and mortality. Manifestations of lung disease in PAD are numerous. Thoughtful application of diagnostic approaches is imperative to accurately identify the form of disease. Much of the treatment used is adapted from immunocompetent populations. Recent genomic and translational medicine advances have led to specific treatments. As chronic lung disease has continued to affect patients with PAD, we hope that continued advancements in our understanding of pulmonary pathology will ultimately lead to effective methods that alleviate impact on quality of life and survival.
    MeSH term(s) Biomarkers ; Chronic Disease ; Diagnosis, Differential ; Diagnostic Imaging/methods ; Disease Management ; Disease Susceptibility ; Fluorescent Antibody Technique ; Humans ; Immunohistochemistry ; Lung Diseases/diagnosis ; Lung Diseases/etiology ; Lung Diseases/therapy ; Primary Immunodeficiency Diseases/complications ; Primary Immunodeficiency Diseases/diagnosis ; Primary Immunodeficiency Diseases/etiology ; Primary Immunodeficiency Diseases/therapy ; Symptom Assessment
    Chemical Substances Biomarkers
    Language English
    Publishing date 2020-06-09
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 92606-1
    ISSN 1557-8607 ; 0889-8561
    ISSN (online) 1557-8607
    ISSN 0889-8561
    DOI 10.1016/j.iac.2020.03.003
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  2. Article ; Online: Interstitial lung diseases in inborn errors of immunity.

    Sullivan, Neal P / Maniam, Nivethietha / Maglione, Paul J

    Current opinion in allergy and clinical immunology

    2023  Volume 23, Issue 6, Page(s) 500–506

    Abstract: Purpose of review: Our goal is to review current understanding of interstitial lung disease (ILD) affecting patients with inborn errors of immunity (IEI). This includes understanding how IEI might predispose to and promote development or progression of ... ...

    Abstract Purpose of review: Our goal is to review current understanding of interstitial lung disease (ILD) affecting patients with inborn errors of immunity (IEI). This includes understanding how IEI might predispose to and promote development or progression of ILD as well as how our growing understanding of IEI can help shape treatment of ILD in these patients. Additionally, by examining current knowledge of ILD in IEI, we hope to identify key knowledge gaps that can become focus of future investigative efforts.
    Recent findings: Recent identification of novel IEI associated with ILD and the latest reports examining treatment of ILD in IEI are included. Of noted interest, are recent clinical studies of immunomodulatory therapy for ILD in common variable immunodeficiency.
    Summary: ILD is a frequent complication found in many IEI. This article provides a guide to identifying manifestations of ILD in IEI. We review a broad spectrum of IEI that develop ILD, including antibody deficiency and immune dysregulation disorders that promote autoimmunity and autoinflammation. This work integrates clinical information with molecular mechanisms of disease and diagnostic assessments to provide an expedient overview of a clinically relevant and expanding topic.
    MeSH term(s) Humans ; Autoimmunity ; Common Variable Immunodeficiency ; Immunomodulation ; Lung Diseases, Interstitial/diagnosis ; Primary Immunodeficiency Diseases
    Language English
    Publishing date 2023-10-12
    Publishing country United States
    Document type Review ; Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural
    ZDB-ID 2088710-3
    ISSN 1473-6322 ; 1528-4050
    ISSN (online) 1473-6322
    ISSN 1528-4050
    DOI 10.1097/ACI.0000000000000951
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Editorial: Contemporary challenges in diagnosis and treatment of predominantly antibody deficiency.

    Ameratunga, Rohan / Abolhassani, Hassan / Maglione, Paul J / Edwards, Emily S J

    Frontiers in immunology

    2022  Volume 13, Page(s) 959720

    MeSH term(s) Humans ; IgA Deficiency ; Immunologic Deficiency Syndromes/diagnosis ; Immunologic Deficiency Syndromes/therapy ; Primary Immunodeficiency Diseases
    Language English
    Publishing date 2022-08-15
    Publishing country Switzerland
    Document type Editorial ; Research Support, N.I.H., Extramural
    ZDB-ID 2606827-8
    ISSN 1664-3224 ; 1664-3224
    ISSN (online) 1664-3224
    ISSN 1664-3224
    DOI 10.3389/fimmu.2022.959720
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Autoimmune and Lymphoproliferative Complications of Common Variable Immunodeficiency.

    Maglione, Paul J

    Current allergy and asthma reports

    2016  Volume 16, Issue 3, Page(s) 19

    Abstract: Common variable immunodeficiency (CVID) is frequently complicated by the development of autoimmune and lymphoproliferative diseases. With widespread use of immunoglobulin replacement therapy, autoimmune and lymphoproliferative complications have replaced ...

    Abstract Common variable immunodeficiency (CVID) is frequently complicated by the development of autoimmune and lymphoproliferative diseases. With widespread use of immunoglobulin replacement therapy, autoimmune and lymphoproliferative complications have replaced infection as the major cause of morbidity and mortality in CVID patients. Certain CVID complications, such as bronchiectasis, are likely to be the result of immunodeficiency and are associated with infection susceptibility. However, other complications may result from immune dysregulation rather than immunocompromise. CVID patients develop autoimmunity, lymphoproliferation, and granulomas in association with distinct immunological abnormalities. Mutations in transmembrane activator and CAML interactor, reduction of isotype-switched memory B cells, expansion of CD21 low B cells, heightened interferon signature expression, and retained B cell function are all associated with both autoimmunity and lymphoproliferation in CVID. Further research aimed to better understand that the pathological mechanisms of these shared forms of immune dysregulation may inspire therapies beneficial for multiple CVID complications.
    MeSH term(s) Autoimmune Lymphoproliferative Syndrome/etiology ; Autoimmune Lymphoproliferative Syndrome/immunology ; Autoimmunity ; B-Lymphocytes/immunology ; Common Variable Immunodeficiency/complications ; Common Variable Immunodeficiency/immunology ; Humans ; Immunoglobulin Class Switching ; Mutation
    Language English
    Publishing date 2016-03
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 2057370-4
    ISSN 1534-6315 ; 1529-7322
    ISSN (online) 1534-6315
    ISSN 1529-7322
    DOI 10.1007/s11882-016-0597-6
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  5. Article ; Online: Consideration of pulmonary hypertension in the evaluation of common variable immunodeficiency.

    Maglione, Paul J / Gereige, Jessica D / Lee, Theodore K

    Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology

    2021  Volume 127, Issue 4, Page(s) 513

    MeSH term(s) Bronchiectasis/pathology ; Common Variable Immunodeficiency/diagnosis ; Common Variable Immunodeficiency/etiology ; Humans ; Hypertension, Pulmonary/complications ; Hypertension, Pulmonary/pathology ; Lung Diseases, Interstitial/pathology ; Pulmonary Disease, Chronic Obstructive/pathology
    Language English
    Publishing date 2021-10-01
    Publishing country United States
    Document type Letter
    ZDB-ID 1228189-x
    ISSN 1534-4436 ; 0003-4738 ; 1081-1206
    ISSN (online) 1534-4436
    ISSN 0003-4738 ; 1081-1206
    DOI 10.1016/j.anai.2021.07.024
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  6. Article ; Online: State-of-the-art diagnostic evaluation of common variable immunodeficiency.

    Lee, Theodore K / Gereige, Jessica D / Maglione, Paul J

    Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology

    2021  Volume 127, Issue 1, Page(s) 19–27

    Abstract: Objective: To summarize the current understanding of diagnostic and postdiagnostic evaluation of common variable immunodeficiency (CVID).: Data sources: PubMed Central database.: Study selections: Original research articles and review articles ... ...

    Abstract Objective: To summarize the current understanding of diagnostic and postdiagnostic evaluation of common variable immunodeficiency (CVID).
    Data sources: PubMed Central database.
    Study selections: Original research articles and review articles from 2015 to 2020 including seminal articles that shaped the diagnostic and postdiagnostic evaluation of CVID were incorporated. This work focuses on initial diagnosis of CVID, genetic evaluations, and postdiagnostic assessment of respiratory, gastrointestinal, and hepatobiliary diseases including spleen and lymph node enlargement.
    Results: CVID presents not only with frequent infections but also with noninfectious complications such as autoimmunity, gastrointestinal disease, chronic lung disease, granulomas, liver disease, lymphoid hyperplasia, splenomegaly, or malignancy. The risk of morbidity and mortality is higher in patients with CVID and noninfectious complications. Detailed diagnostic approaches, which may incorporate genetic testing, can aid characterization of individual CVID cases and shape treatment in some instances. Moreover, continued evaluation after CVID diagnosis is key to optimal management of this complex disorder. These postdiagnostic evaluations include pulmonary function testing, radiologic studies, and laboratory evaluations that may be conducted at frequencies determined by disease activity.
    Conclusion: Although the diagnosis can be achieved similarly in all patients with CVID, those with noninfectious complications have distinct concerns during clinical evaluation. State-of-the-art workup of CVID with noninfectious complications typically includes genetic analysis, which may shape precision therapy, and thoughtful application of postdiagnostic tests that monitor the presence and progression of disease in the myriad of tissues that may be affected. Even with recent advancements, knowledge gaps in diagnosis, prognosis, and treatment of CVID persist, and continued research efforts are needed.
    MeSH term(s) Autoimmunity ; Common Variable Immunodeficiency/complications ; Common Variable Immunodeficiency/diagnosis ; Common Variable Immunodeficiency/genetics ; Common Variable Immunodeficiency/immunology ; Gastrointestinal Diseases/complications ; Humans ; Liver Diseases/complications ; Lung Diseases/complications ; Neoplasms/complications ; Prognosis
    Language English
    Publishing date 2021-03-11
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 1228189-x
    ISSN 1534-4436 ; 0003-4738 ; 1081-1206
    ISSN (online) 1534-4436
    ISSN 0003-4738 ; 1081-1206
    DOI 10.1016/j.anai.2021.03.005
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  7. Article ; Online: Current Understanding and Recent Developments in Common Variable Immunodeficiency Associated Autoimmunity.

    Gereige, Jessica D / Maglione, Paul J

    Frontiers in immunology

    2019  Volume 10, Page(s) 2753

    Abstract: Common variable immunodeficiency (CVID) is the most prevalent symptomatic primary immunodeficiency and comprises a group of disorders with similar antibody deficiency but a myriad of different etiologies, most of which remain undefined. The variable ... ...

    Abstract Common variable immunodeficiency (CVID) is the most prevalent symptomatic primary immunodeficiency and comprises a group of disorders with similar antibody deficiency but a myriad of different etiologies, most of which remain undefined. The variable aspect of CVID refers to the approximately half of patients who develop non-infectious complications in addition to heightened susceptibility to infection. The pathogenesis of these complications is poorly understood and somewhat counterintuitive because these patients that are defined by their immune futility simultaneously have elevated propensity for autoimmune disease. There are numerous aspects of immune dysregulation associated with autoimmunity in CVID that have only begun to be studied. These findings include elevations of T helper type 1 and follicular helper T cells and B cells expressing low levels of CD21 as well as reciprocal decreases in regulatory T cells and isotype-switched memory B cells. Recently, advances in genomics have furthered our understanding of the fundamental biology underlying autoimmunity in CVID and led to precision therapeutic approaches. However, these genetic etiologies are also associated with clinical heterogeneity and incomplete penetrance, highlighting the fact that continued research efforts remain necessary to optimize treatment. Additional factors, such as commensal microbial dysbiosis, remain to be better elucidated. Thus, while recent advances in our understanding of CVID-associated autoimmunity have been exciting and substantial, these current scientific advances must now serve as building blocks for the next stages of discovery.
    MeSH term(s) Animals ; Autoimmune Diseases/diagnosis ; Autoimmune Diseases/etiology ; Autoimmune Diseases/metabolism ; Autoimmune Diseases/therapy ; Autoimmunity ; B-Lymphocytes/immunology ; B-Lymphocytes/metabolism ; Biomarkers ; Common Variable Immunodeficiency/diagnosis ; Common Variable Immunodeficiency/etiology ; Common Variable Immunodeficiency/metabolism ; Common Variable Immunodeficiency/therapy ; Disease Management ; Disease Susceptibility ; Genetic Predisposition to Disease ; Humans ; Immunophenotyping ; Microbiota ; T-Lymphocytes/immunology ; T-Lymphocytes/metabolism
    Chemical Substances Biomarkers
    Language English
    Publishing date 2019-12-10
    Publishing country Switzerland
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 2606827-8
    ISSN 1664-3224 ; 1664-3224
    ISSN (online) 1664-3224
    ISSN 1664-3224
    DOI 10.3389/fimmu.2019.02753
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  8. Article ; Online: Delayed Diagnosis of Good Syndrome.

    Gereige, Jessica D / Maglione, Paul J / Guenechea-Sola, Miren

    The journal of allergy and clinical immunology. In practice

    2019  Volume 8, Issue 4, Page(s) 1396–1397

    MeSH term(s) Delayed Diagnosis ; Humans ; Lymphatic Diseases
    Language English
    Publishing date 2019-12-12
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2843237-X
    ISSN 2213-2201 ; 2213-2198
    ISSN (online) 2213-2201
    ISSN 2213-2198
    DOI 10.1016/j.jaip.2019.11.019
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  9. Article ; Online: Racial and ethnic disparities in early mortality among patients with inborn errors of immunity.

    Ong, Mei-Sing / Rider, Nicholas L / Stein, Sarah / Maglione, Paul J / Galbraith, Alison / DiGiacomo, Daniel V / Farmer, Jocelyn R

    The Journal of allergy and clinical immunology

    2023  Volume 153, Issue 1, Page(s) 335–340.e1

    Abstract: Background: Racial and ethnic disparities in life expectancy in the United States have been widely documented. To date, there remains a paucity of similar data in patients with inborn errors of immunity (IEIs).: Objective: Our aim was to examine ... ...

    Abstract Background: Racial and ethnic disparities in life expectancy in the United States have been widely documented. To date, there remains a paucity of similar data in patients with inborn errors of immunity (IEIs).
    Objective: Our aim was to examine racial and ethnic differences in mortality due to an IEI in the United States.
    Methods: We analyzed National Center for Health Statistics national mortality data from 2003 to 2018. We quantified age-adjusted death rate and age-specific death rate as a result of an IEI for each major racial and ethnic group in the United States and examined the association of race and ethnicity with death at a younger age.
    Results: From 2003 to 2018, IEIs were reported as the underlying or contributing cause of death in 14,970 individuals nationwide. The age-adjusted death rate was highest among Black patients (4.25 per 1,000,000 person years), compared with 2.01, 1.71, 1.50, and 0.92 per 1,000,000 person years for White, American Indian/Alaska Native, Hispanic, and Asian/Pacific Islander patients, respectively. The odds of death before age 65 years were greatest among Black patients (odds ratio [OR] = 5.15 [95% CI = 4.61-5.76]), followed by American Indian/Alaska Native patients (OR = 3.58 [95% CI = 2.30-5.82]), compared with White patients. The odds of death before age 24 years were greater among Hispanic patients than among non-Hispanic patients (OR = 3.60 [95% CI = 3.08-4.18]).
    Conclusion: Our study highlights racial and ethnic disparities in mortality due to an IEI and the urgent need to further identify and systematically remove barriers in care for historically marginalized patients with IEIs.
    MeSH term(s) Humans ; Ethnicity ; United States/epidemiology ; Racial Groups ; Health Status Disparities ; Immune System Diseases/genetics ; Immune System Diseases/mortality
    Language English
    Publishing date 2023-10-05
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural
    ZDB-ID 121011-7
    ISSN 1097-6825 ; 1085-8725 ; 0091-6749
    ISSN (online) 1097-6825 ; 1085-8725
    ISSN 0091-6749
    DOI 10.1016/j.jaci.2023.09.036
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  10. Article ; Online: Clinical disparity of primary antibody deficiency patients at a safety net hospital.

    Wallace, Luke J / Ware, Matthew S / Cunningham-Rundles, Charlotte / Fuleihan, Ramsay L / Maglione, Paul J

    The journal of allergy and clinical immunology. In practice

    2021  Volume 9, Issue 7, Page(s) 2923–2925.e1

    MeSH term(s) Healthcare Disparities ; Humans ; Medically Uninsured ; Primary Immunodeficiency Diseases ; Safety-net Providers ; United States
    Language English
    Publishing date 2021-03-23
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 2843237-X
    ISSN 2213-2201 ; 2213-2198
    ISSN (online) 2213-2201
    ISSN 2213-2198
    DOI 10.1016/j.jaip.2021.03.021
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