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Primary Immunodeficiency

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1. Home-Based Subcutaneous Infusion of Immunoglobulin for Primary and Secondary Immunodeficiencies

Home-Based Subcutaneous Infusion of Immunoglobulin for Primary and Secondary Immunodeficiencies Home-Based Subcutaneous Infusion of Immunoglobulin for Primary and Secondary Immunodeficiencies - Health Quality Ontario (HQO) Let's make our health system healthier Open Menu Quick Links Search Search A A A Evidence to Improve Care Share: Home-Based Subcutaneous Infusion of Immunoglobulin for Primary and Secondary Immunodeficiencies Ontario Health Technology Advisory Committee Recommendation (...) The Ontario Health Technology Advisory Committee recommends that home-based subcutaneous infusion of immunoglobulin be publicly funded for treatment of patients with primary and secondary immunodeficiencies. Immunodeficiency is a condition in which the body’s natural defence system, the immune system, is unable to produce sufficient antibodies to fight infection and disease. The condition can be primary, where you are born with it, or secondary, where it’s acquired through infection or as a side effect

2017 Health Quality Ontario

2. Home-based subcutaneous infusion of immunoglobulin for primary and secondary immunodeficiencies: OHTAC recommendation

Home-based subcutaneous infusion of immunoglobulin for primary and secondary immunodeficiencies: OHTAC recommendation Home-based subcutaneous infusion of immunoglobulin for primary and secondary immunodeficiencies: OHTAC recommendation Home-based subcutaneous infusion of immunoglobulin for primary and secondary immunodeficiencies: OHTAC recommendation Health Quality Ontario Record Status This is a bibliographic record of a published health technology assessment from a member of INAHTA (...) . No evaluation of the quality of this assessment has been made for the HTA database. Citation Health Quality Ontario. Home-based subcutaneous infusion of immunoglobulin for primary and secondary immunodeficiencies: OHTAC recommendation. Toronto: Health Quality Ontario (HQO). 2017 Authors' conclusions The Ontario Health Technology Advisory Committee recommends that home-based subcutaneous infusion of immunoglobulin be publicly funded for treatment of patients with primary and secondary immunodeficiencies

2018 Health Technology Assessment (HTA) Database.

3. Discovering aspects of health—experiences of a web‐based health diary among adults with primary immunodeficiency (PubMed)

Discovering aspects of health—experiences of a web‐based health diary among adults with primary immunodeficiency Advances in technology generate new opportunities to develop e-health tools to help individuals in self-management by assessing symptoms of illness and its relation to treatments. Self-management is central when living with primary immunodeficiency diseases. The aim was to explore the experiences of people living with primary immunodeficiency, who used a pilot version of the web (...) that affects the individuals' life situation and assists the self-management of a long-term condition such as immunodeficiency.

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2018 Nursing open

4. Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case (PubMed)

Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case We investigated the molecular etiology of a young male proband with confirmed immunodeficiency of unknown cause, presenting with recurrent bacterial and Varicella zoster viral infections in childhood and persistent lymphopenia into early adulthood.To identify causative functional genetic variants related to an undiagnosed primary immunodeficiency.Whole genome microarray copy number variant (...) in the proband compared to an age- and sex-matched healthy control subject in whole blood (p = 0.02), and lymphocytes (p = 0.01). These results confirmed moesin deficiency in the proband, directly causative of his immunodeficient phenotype.These findings confirm X-linked moesin-associated immunodeficiency in a proband previously undiagnosed up to 24 years of age. This study also highlights the utility of WES for the diagnosis of rare or novel forms of primary immunodeficiency disease.

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2018 Frontiers in immunology

5. Increased Incidence of Fatigue in Patients with Primary Immunodeficiency Disorders: Prevalence and Associations Within the US Immunodeficiency Network Registry (PubMed)

Increased Incidence of Fatigue in Patients with Primary Immunodeficiency Disorders: Prevalence and Associations Within the US Immunodeficiency Network Registry Patients with primary immunodeficiency (PID) often report fatigue, yet this symptom has not been studied in PID. Fatigue affects 6-7.5% of healthy adults. The goal of this study is to estimate the prevalence of fatigue in patients with PID and investigate its associated factors.We analyzed 2537 PID patients registered in USIDNET (...) to determine responses to the field "fatigue" in the core registry form. Demographics, immune phenotypes, and comorbid conditions were compared between fatigued and non-fatigued patients to identify relevant associations and potential drivers. A focused analysis was performed for patients with predominantly antibody deficiency disorders (PADs).Fatigue was reported in 25.9% (95% CI 23.7-28.3) of PAD patients, compared to 6.4% (95% CI 4.9-8.2) of non-PAD. Patients with common variable immunodeficiency (CVID

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2017 Journal of clinical immunology

6. Anxiety and depression in adults with primary immunodeficiency: How much do these patients experience and how much do they attribute to their primary immunodeficiency? (PubMed)

Anxiety and depression in adults with primary immunodeficiency: How much do these patients experience and how much do they attribute to their primary immunodeficiency? Primary immunodeficiency (PID) is a rare group of disorders that manifest similarly with infection, neoplasms, allergic, and autoimmune diseases, and are treated with injectable medications. Often the burden of disease and cost of management is excessive, and premature death is not uncommon. In light of these features of PID

2016 Allergy and Asthma Proceedings

7. Gene mutations responsible for primary immunodeficiency disorders: A report from the first primary immunodeficiency biobank in Iran (PubMed)

Gene mutations responsible for primary immunodeficiency disorders: A report from the first primary immunodeficiency biobank in Iran Primary immunodeficiency (PID) is a heterogeneous group of inheritable genetic disorders with increased susceptibility to infections, autoimmunity, uncontrolled inflammation and malignancy. Timely precise diagnosis of these patients is very essential since they may not be able to live with their congenital immunity defects; otherwise, they could survive (...) and protect their DNA content.Our study comprised 197 patients diagnosed with PID. Antibody deficiency in 50 patients (25.4%), phagocytic defect in 47 patients (23.8%) and combined immunodeficiency with associated/syndromic feature in 19 patients (9.6%) were the most common PID diagnoses, respectively. The most common variant of PID in our study is common variable immunodeficiency, which accounted for 20 cases (10.1%), followed by chronic mucocutaneous candidiasis in 15 patients (7.9%) and congenital

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2016 Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology

8. Primary Immunodeficiency - 2017 ACAAI COLA lecture by Dr Bonilla

Primary Immunodeficiency - 2017 ACAAI COLA lecture by Dr Bonilla Allergy Notes: Primary Immunodeficiency - 2017 ACAAI COLA lecture by Dr Bonilla Allergy, Asthma and Immunology News Updated Daily by Board-certified Allergist at Cleveland Clinic Florida Pages Primary Immunodeficiency - 2017 ACAAI COLA lecture by Dr Bonilla Dr. Bonilla reviews how to diagnose and treat patients with primary immunodeficiency. Held on Sept 1, 2017: Posted by Allergy on Labels: , , No comments: Post a Comment

2019 Allergy Notes blog

9. Genetic diagnosis of primary immunodeficiencies: a survey of the French national registry. (PubMed)

Genetic diagnosis of primary immunodeficiencies: a survey of the French national registry. 30639347 2019 02 06 1097-6825 2019 Jan 09 The Journal of allergy and clinical immunology J. Allergy Clin. Immunol. Genetic diagnosis of primary immunodeficiencies: A survey of the French national registry. S0091-6749(19)30004-1 10.1016/j.jaci.2018.12.994 Mahlaoui Nizar N French National Reference Center for Primary Immune Deficiencies (CEREDIH), Necker Enfants Malades University Hospital, Assistance (...) Immunodeficiencies, Necker Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France. Bach Perrine P French National Reference Center for Primary Immune Deficiencies (CEREDIH), Necker Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France. Costes Laurence L French National Reference Center for Primary Immune Deficiencies (CEREDIH), Necker Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France. Courteille

2019 Journal of Allergy and Clinical Immunology

10. Lymphoproliferative Disease in Wiskott-Aldrich Syndrome. Analysis of the French Registry of Primary Immunodeficiencies. (PubMed)

Lymphoproliferative Disease in Wiskott-Aldrich Syndrome. Analysis of the French Registry of Primary Immunodeficiencies. Aggressive mature B-cell LPD can occur in WAS as in XLT pediatric and adult patients. Immunochemotherapy is applicable to all WAS/XLT patients, while transplantation still remains controversial for adult patients.Copyright © 2019. Published by Elsevier Inc.

2019 Journal of Allergy and Clinical Immunology

11. Primary immunodeficiency and autoimmunity: A comprehensive review. (PubMed)

Primary immunodeficiency and autoimmunity: A comprehensive review. The primary immunodeficiency diseases (PIDs) include many genetic disorders that affect different components of the innate and adaptive responses. The number of distinct genetic PIDs has increased exponentially with improved methods of detection and advanced laboratory methodology. Patients with PIDs have an increased susceptibility to infectious diseases and non-infectious complications including allergies, malignancies (...) and autoimmune diseases (ADs), the latter being the first manifestation of PIDs in several cases. There are two types of PIDS. Monogenic immunodeficiencies due to mutations in genes involved in immunological tolerance that increase the predisposition to develop autoimmunity including polyautoimmunity, and polygenic immunodeficiencies characterized by a heterogeneous clinical presentation that can be explained by a complex pathophysiology and which may have a multifactorial etiology. The high prevalence

2019 Journal of Autoimmunity

12. Congenital neutropenia and primary immunodeficiency diseases. (PubMed)

Congenital neutropenia and primary immunodeficiency diseases. Neutropenia is a dangerous and potentially fatal condition that renders patients vulnerable to recurrent infections. Its severity is commensurate with the absolute count of neutrophil granulocytes in the circulation. In paediatric patients, neutropenia can have many different aetiologies. Primary causes make up but a small portion of the whole and are relatively unknown. In the past decades, a number of genes has been discovered (...) that are responsible for congenital neutropenia. By perturbation of mitochondrial energy metabolism, vesicle trafficking or synthesis of functional proteins, these mutations cause a maturation arrest in myeloid precursor cells in the bone marrow. Apart from these isolated forms, congenital neutropenia is associated with a multiplicity of syndromic diseases that includes among others: oculocutaneous albinism, metabolic diseases and bone marrow failure syndromes. Congenital neutropenia is a primary immunodeficiency

2019 Critical reviews in oncology/hematology

13. Refining the dermatological spectrum in primary immunodeficiency: MALT1 deficiency mimicking Netherton- and Omenn syndrome. (PubMed)

Refining the dermatological spectrum in primary immunodeficiency: MALT1 deficiency mimicking Netherton- and Omenn syndrome. The proteinase MALT1, forming the CBM signalosome complex together with BCL10 and members of the CARD family, plays a direct role in NF-κB activation. Here, we describe the case of a young female infant with severe immune dysregulation leading to recurrent systemic infections, failure to thrive and severe crises of ichthyosiform erythrodermia with high levels of serum IgE

2019 British Journal of Dermatology

14. Tolerability of Ig20Gly During Onboarding in Patients With Primary Immunodeficiency Diseases. (PubMed)

Tolerability of Ig20Gly During Onboarding in Patients With Primary Immunodeficiency Diseases. The subcutaneous immune globulin (SCIG) 20% product, Ig20Gly, was shown to be efficacious and well tolerated in two phase 2/3 North American and European studies at infusion volumes up to 60 mL/site and rates up to 60 mL/h/site in patients with primary immunodeficiency diseases.To assess patient experience after switching to Ig20Gly with fast infusion rates and large infusion volumes/site in the North

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2019 Asthma & Immunology

15. Disease burden for patients with primary immunodeficiency diseases identified at reference hospitals in Guanajuato, Mexico. (PubMed)

Disease burden for patients with primary immunodeficiency diseases identified at reference hospitals in Guanajuato, Mexico. In addition to the deleterious effect on health, there is considerable economic and psychosocial morbidity associated with primary immunodeficiency diseases (PID). Also, the cost of a late diagnosis frequently results in a heavy disease burden on the patient. The objective of this study was to collect and analyze data on patients with PID in the state of Guanajuato (...) controls. Complications secondary to PID were detected in 19 patients (43.18%). The reported overall mortality rate was 6.82% (n = 3).We were able to indirectly estimate an important disease burden in patients with PID; which is considered to be preventable, at least in part, with effective interventions like health planning, research, collaboration with primary care providers, and generation of policies and practices, in order to improve the quality of life and care of families with PID.

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2017 PLoS ONE

16. Simulation of the dynamics of primary immunodeficiencies in CD4+ T-cells. (PubMed)

Simulation of the dynamics of primary immunodeficiencies in CD4+ T-cells. Primary immunodeficiencies (PIDs) form a large and heterogeneous group of mainly rare disorders that affect the immune system. T-cell deficiencies account for about one-tenth of PIDs, most of them being monogenic. Apart from genetic and clinical information, lots of other data are available for PID proteins and genes, including functions and interactions. Thus, it is possible to perform systems biology studies

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2017 PLoS ONE

17. Genetic Study of Immunodeficiency: Search for New Genetic Causes for Primary Immunodeficiencies

Genetic Study of Immunodeficiency: Search for New Genetic Causes for Primary Immunodeficiencies Genetic Study of Immunodeficiency: Search for New Genetic Causes for Primary Immunodeficiencies - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove one (...) or more studies before adding more. Genetic Study of Immunodeficiency: Search for New Genetic Causes for Primary Immunodeficiencies (GSI) The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. of clinical studies and talk to your health care provider before participating. Read our for details. ClinicalTrials.gov Identifier: NCT02735824 Recruitment Status

2016 Clinical Trials

18. How effective are the 6 European Society of Immunodeficiency warning signs for primary immunodeficiency disease? (PubMed)

How effective are the 6 European Society of Immunodeficiency warning signs for primary immunodeficiency disease? The European Society of Immunodeficiency (ESID) developed 6 warning signs to promote the awareness of adult primary immunodeficiency disease (PID).To screen adult patients for the presence of PID using these 6 warning signs to determine the effectiveness of this protocol.Questions related to the ESID warning signs for adult PID were added to the standard outpatient clinic file system (...) and asked of 3,510 patients who were admitted to our clinic for any reason. Patients with signs and/or suspicion of PID based on their medical history underwent immunologic investigation.In total, 24 patients were diagnosed as having a PID. The most common reason that patients with PID were admitted was frequent infection (n=18 [75%]), and the most common PID subgroup was common variable immunodeficiency (n=12 [50%]). Twenty patients with PID had at least one positive finding according to the ESID

2016 Asthma & Immunology

19. Interaction Between Macrophage Migration Inhibitory Factor and CD74 in Human Immunodeficiency Virus Type I Infected Primary Monocyte-Derived Macrophages Triggers the Production of Proinflammatory Mediators and Enhances Infection of Unactivated CD4+ T Cell (PubMed)

Interaction Between Macrophage Migration Inhibitory Factor and CD74 in Human Immunodeficiency Virus Type I Infected Primary Monocyte-Derived Macrophages Triggers the Production of Proinflammatory Mediators and Enhances Infection of Unactivated CD4+ T Cell Understanding the mechanisms of human immunodeficiency virus type I (HIV-1) pathogenesis would facilitate the identification of new therapeutic targets to control the infection in face of current antiretroviral therapy limitations. CD74 (...) membrane expression is upregulated in HIV-1-infected cells and the magnitude of its modulation correlates with immune hyperactivation in HIV-infected individuals. In addition, plasma level of the CD74 activating ligand macrophage migration inhibitory factor (MIF) is increased in infected subjects. However, the role played by MIF/CD74 interaction in HIV pathogenesis remains unexplored. Here, we studied the effect of MIF/CD74 interaction on primary HIV-infected monocyte-derived macrophages (MDMs) and its

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2018 Frontiers in immunology

20. What Is the Burden of Immunoglobulin Replacement Therapy in Adult Patients With Primary Immunodeficiencies? A Systematic Review (PubMed)

What Is the Burden of Immunoglobulin Replacement Therapy in Adult Patients With Primary Immunodeficiencies? A Systematic Review Primary immunodeficiency disorders (PIDs) are a group of heterogeneous rare disorders, whereby the immune system is missing or not functioning adequately. For patients requiring treatment, the most common option is immunoglobulin replacement therapy (Ig). Treatment of PIDs is simultaneously associated with both improvements in health-related quality of life (HRQoL

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2018 Frontiers in immunology

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