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Primary Immunodeficiency

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1. Diagnostic Interpretation of Genetic Studies in Patients with Primary Immunodeficiency Diseases: A Working Group Report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma, and Immunology. (PubMed)

Diagnostic Interpretation of Genetic Studies in Patients with Primary Immunodeficiency Diseases: A Working Group Report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma, and Immunology. Genetic testing has become an integral component of the diagnostic evaluation of patients with suspected primary immunodeficiency diseases. Results of genetic testing can have profound impact on clinical management decisions. Clinical providers must therefore (...) demonstrate proficiency in interpreting genetic data. Because of the need for increased knowledge regarding this practice, the American Academy of Allergy, Asthma, and Immunology Primary Immunodeficiency Diseases Committee established a Work Group that reviewed and summarized information concerning appropriate methods, tools, and resources for evaluating variants identified by genetic testing. Strengths and limitations of tests frequently ordered by clinicians were examined. Summary statements and tables

2019 Journal of Allergy and Clinical Immunology

2. 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

3. 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.

4. ASCIA Clinical Update - Primary Immunodeficiencies (PID)

ASCIA Clinical Update - Primary Immunodeficiencies (PID) Disclaimer: ASCIA information is reviewed by ASCIA members and represents the available published literature at the time of review. The content of this document is not intended to replace professional medical advice and any questions regarding a medical diagnosis or treatment should be directed to a medical practitioner. © ASCIA 2017 Primary immunodeficiencies (PID) Clinical Update This Clinical Update complements ASCIA primary (...) of PIDs 4 3. Immunoglobulin Replacement Therapy (IRT) 10 4. Severe Combined Immunodeficiency (SCID) 12 5. Antibody deficiency disorders 14 6. Complement disorders including HAE 17 7. Other PID syndromes 22 8. References and further information 25 For further information register at https://immunodeficiency.ascia.org.au/ to complete the ASCIA primary immunodeficiencies (PID) e-training for health professionals, which includes a final assessment. 1. Immunodeficiency overview How does the immune system

2017 Australasian Society of Clinical Immunology and Allergy

5. 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

6. 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

7. Comparing changes over time in the number of neonatal peripheral blood's T-cell receptor excision circles (TREC) and kappa-deleting recombination excision circles (KREC) in newborns with primary immunodeficiency diseases a meta-analysis

Comparing changes over time in the number of neonatal peripheral blood's T-cell receptor excision circles (TREC) and kappa-deleting recombination excision circles (KREC) in newborns with primary immunodeficiency diseases a meta-analysis Print | PDF PROSPERO This information has been provided by the named contact for this review. CRD has accepted this information in good faith and registered the review in PROSPERO. The registrant confirms that the information supplied for this submission (...) screening: 1. Not an original full research paper (e.g. review, editorial) 2. Not an in vivo animal study 3. No metastases/ only primary tumor 4. No control group 5. Combination therapy or contamination 6. Not about analgesics used in the clinic Full text-screening: As above, with the addition of: 7. No relevant outcome measure reported ">Prioritise the exclusion criteria Example: Two reviewers will independently extract data from each article. We first try to extract numerical data from tables, text

2019 PROSPERO

8. 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

9. 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

10. 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

11. 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

12. 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

13. 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

14. 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

15. 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

16. 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

17. New graft manipulation strategies improved outcome of mismatched stem cell transplantation in children with primary immunodeficiencies. (PubMed)

New graft manipulation strategies improved outcome of mismatched stem cell transplantation in children with primary immunodeficiencies. Mismatched stem cell transplantation is associated with a high risk of graft loss, graft-versus-host disease (GvHD), and transplant-related mortality. Alternative graft manipulation strategies have been used over the last 11 years to reduce these risks.We investigated the outcome of using different graft manipulation strategies among children with primary (...) immunodeficiencies.Between 2006 and 2017, 147 patients with primary immunodeficiencies received 155 mismatched grafts: 30 T-cell receptor (TCR) αβ/CD19-depleted grafts, 43 cord blood (CB) grafts (72% with no serotherapy), 17 CD34+ selection with T-cell add-back grafts, and 65 unmanipulated grafts.The estimated 8-year survival of the entire cohort was 79%, transplant-related mortality was 21.7%, and the graft failure rate was 6.7%. Posttransplantation viral reactivation, grade II to IV acute graft-versus-host disease

2019 Journal of Allergy and Clinical Immunology

18. IRIS as a post-transplantation complication in primary immunodeficiency with disseminated M. avium. (PubMed)

IRIS as a post-transplantation complication in primary immunodeficiency with disseminated M. avium. Patients with primary immunodeficiencies undergoing allogeneic hematopoietic cell transplantation (HCT) for difficult-to-control infections can experience immune reconstitution inflammatory syndrome (IRIS) following engraftment. We describe three patients with post-HCT IRIS related to mycobacterial infection, with in vitro data demonstrating emergence of pathogen-specific immune responses

2019 Clinical Infectious Diseases

19. Supporting caregivers during hematopoietic cell transplantation for children with primary immunodeficiency disorders. (PubMed)

Supporting caregivers during hematopoietic cell transplantation for children with primary immunodeficiency disorders. Caregivers of children with primary immunodeficiency disorders (PIDs) experience significant psychological distress during their child's hematopoietic cell transplantation (HCT) process.This study aims to understand caregiver challenges and identify areas for health care system-level improvements to enhance caregiver well-being.In this mixed-methods study caregivers of children

2019 Journal of Allergy and Clinical Immunology

20. 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

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