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31891 search results for:

Primary Immunodeficiency 

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  1. Open Access 01-03-2024 | Primary Immunodeficiency | OriginalPaper

    Psychosocial Evaluation of Adults with Primary Immunodeficiency

    Primary immunodeficiency (PID) may manifest as recurrent, severe, atypical infections or autoimmunity, lymphoproliferation, or malignancies at diagnosis or during the course of the disease. There are many different types of PIDs, ranging from …

  2. 01-06-2024 | Thymectomy | OriginalPaper

    Immunological Aspects of Kabuki Syndrome: A Retrospective Multicenter Study of the Italian Primary Immunodeficiency Network (IPINet)

    Kabuki Syndrome (KS) is a multisystemic genetic disorder. A portion of patients has immunological manifestations characterized by increased susceptibility to infections and autoimmunity. Aiming to describe the clinical and laboratory immunological …

  3. 01-02-2024 | OriginalPaper

    Spectrum of Primary Immunodeficiency Disorders in Hospitalized Children: Multicentric Data From Kolkata

  4. Open Access 01-02-2024 | OriginalPaper

    The Inborn Errors of Immunity—Virtual Consultation System Platform in Service for the Italian Primary Immunodeficiency Network: Results from the Validation Phase

    Inborn errors of immunity (IEI) represent a heterogeneous group of rare genetically determined diseases, caused by a quantitative and/or functional defect in one or more immune system components [ 1 , 2 ]. In the last two decades, novel diagnostic …

  5. Open Access 08-11-2023 | Bronchiectasis | Online First

    Primary immunodeficiency diseases of adults: a review of pulmonary complication imaging findings

    Primary immunodeficiency diseases are a heterogeneous group of inborn errors of immunity exceeding 400 distinct disorders, listed by the International Union of Immunological Societies, mainly defined by specific underlying gene defects [ 1 ]. The …

  6. Open Access 26-09-2023 | Primary Immunodeficiency | OriginalPaper

    Real-World Use, Safety, and Patient Experience of 20% Subcutaneous Immunoglobulin for Primary Immunodeficiency Diseases

    This article is published with digital features, including a graphical abstract, to facilitate understanding of the article. To view digital features for this article, go to https://doi.org/10.6084/m9.figshare.23932341 .

  7. Open Access 29-09-2023 | Pharmacokinetics | OriginalPaper

    Effects of Body Mass and Age on the Pharmacokinetics of Subcutaneous or Hyaluronidase-facilitated Subcutaneous Immunoglobulin G in Primary Immunodeficiency Diseases

    Primary immunodeficiency diseases (PIDD) are a group of over 480 conditions affecting the immune system [ 1 ]. Affected patients are predisposed to recurrent infections by a broad range of pathogens, with the infectious agent largely depending on …

  8. Open Access 26-07-2023 | Lymphoma | OriginalPaper

    Integrated genetic analyses of immunodeficiency-associated Epstein-Barr virus- (EBV) positive primary CNS lymphomas

    Immunodeficiency-associated primary CNS lymphoma (PCNSL) represents a distinct clinicopathological entity, which is typically Epstein-Barr virus-positive (EBV+) and carries an inferior prognosis. Genetic alterations that characterize EBV-related …

  9. Open Access 03-08-2022 | Primary Immunodeficiency | ReviewPaper

    Spectrum of Large- and Medium-Vessel Vasculitis in Adults: Neoplastic, Infectious, Drug-Induced, Autoinflammatory, and Primary Immunodeficiency Diseases

    Advanced genetic analyses and novel pharmacotherapeutics or microbes led to the identification of new disease entities with vasculitic manifestations during the last two decades, and we expect more to be identified in the future. Thus, an …

  10. 20-07-2023 | Primary Immunodeficiency | Online First

    Major Histocompatibility Complex (MHC) Class II Deficiency- A Case of Primary Immunodeficiency Disorder

    Major Histocompatibility Complex (MHC) Class II deficiency is a rare autosomal recessive primary immunodeficiency caused by mutations in regulatory genes of MHC Class II proteins. Clinical manifestations include respiratory/gastrointestinal …

  11. 01-12-2021 | Primary Immunodeficiency | OriginalPaper

    Analysis of five cases of monogenic lupus related to primary immunodeficiency diseases

    Monogenic lupus shares clinical features with systemic lupus erythematosus (SLE), manifesting as positive autoantibodies and multiple systemic organ involvement, and it is secondary to diseases due to single gene mutation, such as primary

  12. 19-05-2023 | Primary Immunodeficiency | OriginalPaper

    Clinical Features and Genetic Analysis of Taiwanese Primary Immunodeficiency Patients with Prolonged Diarrhea and Monogenetic Inflammatory Bowel Disease

    The intestinal tract is the largest lymphoid organ in the human body, and it contains lymphocytes, macrophages, and dendritic cells to prevent pathogenic invasion, modulate inflammation [ 1 , 2 ], and produce sufficient antibodies for optimal …

  13. Open Access 01-02-2022 | Primary Immunodeficiency | OriginalPaper

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

    Progressive multifocal leukoencephalopathy is a rare opportunistic infection of the brain by John Cunningham polyomavirus in immune-compromised patients. In cases where no overt option for immune reconstitution is available [e.g., in patients with …

  14. Open Access 09-05-2023 | Primary Immunodeficiency | OriginalPaper

    Subcutaneous Immunoglobulin 16.5% (Cutaquig®) in Primary Immunodeficiency Disease: Safety, Tolerability, Efficacy, and Patient Experience with Enhanced Infusion Regimens

    In pediatric and adult patients with primary immunodeficiency disease (PIDD) who have major deficiencies in antibody synthesis, immunoglobulin G [IgG] is used therapeutically for replacement therapy (IgRT) [ 1 – 3 ].The principal IgG infusion …

  15. 05-05-2023 | Primary Immunodeficiency | OriginalPaper

    Quality of Life Evaluation in Saudi Arabian Pediatric Patients with Primary Immunodeficiency Diseases Receiving 20% Subcutaneous IgG Infusions at Home

    Primary immunodeficiency diseases (PIDs) are a group of heterogeneous disorders. Most PIDs have a common defect in antibody production and/or function, resulting in primary antibody deficiency (PAD) [ 1 ]. Patients with primary antibody deficiency …

  16. Open Access 01-12-2019 | ReviewPaper

    Focus on Chronic Variable Immunodeficiency for Primary Care Practitioners, the Gatekeepers to Optimal Health Outcomes for Primary Immunodeficiency Syndromes

    The history of scientific understanding of primary immunodeficiency (PIDD) is relatively short but emerging rapidly. It was not until 1952 that primary immunodeficiency was first recognized as a disease. Before the widespread use of antibiotics …

  17. 01-01-2021 | Thrush | Letter

    Cytomegalovirus Laryngitis in Primary Combined Immunodeficiency Diseases

  18. 07-03-2023 | Primary Immunodeficiency | OriginalPaper

    Health-Related Quality of Life of Patients and Families with Primary Immunodeficiency in Malaysia: a Cross-Sectional Study

    Primary immunodeficiency diseases (PID) are inherited disorders caused by defects in the immune system response and function, characterized by high susceptibility to opportunistic infection, autoimmunity, and lymphatic malignancy. In Malaysia, the …

  19. 01-01-2021 | Primary Immunodeficiency | OriginalPaper

    Outcome of Non-hematological Autoimmunity After Hematopoietic Cell Transplantation in Children with Primary Immunodeficiency

    Autoimmunity is increasingly recognized following hematopoietic cell transplantation (HCT) for malignant and non-malignant diseases in children and adults. Autoimmunity post-HCT can be broadly classified into autoimmune cytopenia (AIC) and …

  20. Open Access 01-11-2019 | Primary Immunodeficiency | ReviewPaper

    Conditioning Regimens for Hematopoietic Cell Transplantation in Primary Immunodeficiency

    Primary immunodeficiency (PID) comprises a large, heterogeneous group of disorders that result from defects in immune system development and/or function. Long considered as rare diseases, recent studies show that one in 2000–5000 children younger …

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