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• W4366753681 abstract "The World Health Organization in 1970 convened a committee to classify and define the primary immune deficiency disorders (PIDDs). A report of 14 different entities was described characterizing their genetics, clinical phenotype, diagnostic testing and therapy.1Fudenberg H. Good R.A. Goodman H.C. Hitzig W. Kunkel H.G. Roitt I.M. et al.Primary immunodeficiencies. Report of a World Health Organization Committee.Pediatrics. 1971; 47: 927-946Crossref PubMed Google Scholar The committee met again in 1977 and eventually was assumed by the International Union of Immunological Societies with meetings every 2 to 3 years to update the classification and elucidate the molecular basis and genetic etiology of new emerging PIDDs. In the most recent updated report of 2022,2Tangye S.G. Al-Herz W. Bousfiha A. Cunningham-Rundles C. Franco J.L. Holland S.M. et al.Human inborn errors of immunity: 2022 update on the classification from the International Union of Immunological Societies Expert Committee.J Clin Immunol. 2022; 42: 1473-1507Crossref PubMed Scopus (136) Google Scholar the committee described 55 novel monogenic gene defects to bring the total inborn errors of immunity (IEIs) to 485. The advances in molecular techniques and other laboratory methodologies have significantly advanced our understanding of the cellular and molecular pathways, and often the gene responsible for the disease pathogenesis. This theme issue on immunodeficiency features several categories to help physicians recognize, evaluate, and consider the possible pathways for treatment. Ameratunga et al3Ameratunga R. Edwards E.S.J. Lehnert K. Leung E. Woon S. Lea E. et al.The rapidly expanding genetic spectrum of common variable immunodeficiency-like disorders.J Allergy Clin Immunol Pract. 2023; 11: 1646-1664Abstract Full Text Full Text PDF Scopus (1) Google Scholar discuss the evolution of common variable immunodeficiency (CVID) disorders from a diagnosis of exclusion to a better characterization with new diagnostic criteria and identification of new genetic causative mutations. These investigators discuss in detail the monogenetic defects that are related to the CVID phenotype to give the readers a better understanding of interpreting reports from next-generation sequencing laboratories. Condino-Neto and Dorsey4Condino-Neto A. Dorsey M. Improving access to therapy for patients with inborn errors of immunity: a call to action.J Allergy Clin Immunol Pract. 2023; PubMed Google Scholar present an overview of the IEIs, their diagnosis with newborn screening, and treatment options given our expanded understanding of the genetics and pathways that lead to immune deficiency. They further discuss that the availability of treatment options varies worldwide, particularly access to health care that is dependent on political and economic factors. Improvement in diagnosis and treatment of IEIs will require greater cooperation between all segments of society, the pharmaceutical industry, health care providers, and government. Several of articles in this theme issue address the evaluation of patients for an immune deficiency. One of the important tools for the evaluation of PIDD is flow cytometry not only for identifying T- and B-cell subsets but the function of critical pathways for immune function. Ma et al5Ma C.S. Freeman A.F. Fleisher Y.A. Inborn errors of immunity: a role for functional testing and flow cytometry in aiding clinical diagnosis.J Allergy Clin Immunol Pract. 2023; Abstract Full Text Full Text PDF Google Scholar use case history discussions as learning tools for the use of flow cytometry to evaluate the specific aspects of immune function based on the presenting phenotype of the patient. Assays are discussed that are generally available in medical centers with clinical immunologist caring for patients with PIDD or major commercial laboratories. However, we should not forget that genetic testing has evolved to identify IEIs that may help diagnose overlapping phenotypes and more importantly lead to precision therapy based on the genetic defect. Adenosine deaminase (ADA) deficiency was one of the initial PIDDs in which a genetic defect led to a metabolic imbalance causing an immune deficiency. In addition to the immune deficiency, patients may have a number of other organ system issues that present a challenge to physicians. Grunebaum et al6Grunebaum E. Booth C. Cuvelier G. Loves R. Aiuti A. Kohn D.B. Updated management guidelines for adenosine deaminase deficiency.J Allergy Clin Immunol Pract. 2023; 11: 1665-1675Abstract Full Text Full Text PDF Scopus (2) Google Scholar review the treatment advances in patients with ADA deficiency presenting the complex options of enzyme replacement therapy, allogenic hematopoietic cell transplantation, and gene therapy (GT). They propose guidelines for the management of patients with ADA deficiency and emphasize that long-term and comprehensive follow-up is needed to further help in determining treatment options best for reducing the effects of ADA deficiency on the organ systems outside the immune system. Intravenous immune globulin (IVIG) has long been used not only as replacement in patients with immune deficiency, but as immune modulation in patients with a variety of autoimmune and inflammatory conditions. In 1981, Imbach first recognized that IVIG can improve the platelet numbers in children with idiopathic thrombocytopenia purpura. Subsequent to these observations, there has been an explosion in the use of IVIG in patients with a variety of autoimmune and inflammatory disorders. Today, more than 70% of the IVIG used in the United States is for immune modulation in patients with autoimmune and inflammatory disorders. Although over the past decade our understanding on the mechanism(s) of action of IVIG in these autoimmune diseases has expanded,7Ballow M. The IgG molecule as a biological immune response modifier: mechanisms of action of intravenous immune serum globulin in autoimmune and inflammatory disorders.J Allergy Clin Immunol. 2011; 127 (quiz 24-5): 315-323Abstract Full Text Full Text PDF PubMed Scopus (178) Google Scholar much is still not well understood. Bayry et al8Bayry J. Ahmed E. Toscana-Rivera D. Vonneissen N. Genest G. Cohen C. et al.Intravenous immunoglobulin: mechanism of action in autoimmune and inflammatory conditions.J Allergy Clin Immunol Pract. 2023; 11: 1688-1697Abstract Full Text Full Text PDF Scopus (1) Google Scholar discuss the mechanisms of action of IVIG in these disorders and focus on the specific cellular targets that are modulated by IVIG. These investigations into the mechanisms of action of IVIG in these autoimmune diseases will help develop alternative therapies that are not reliant on plasma-derived products. The understanding of the role of soluble factors mediating cellular functions of the immune system began to develop in the 1970s and 1980s, and as Tangye and Puel9Tangye S. Puel A. Th17/IL-17 producing cells and human infectious diseases.J Allergy Clin Immunol Pract. 2023; PubMed Google Scholar explain, more than 60 cytokines have been identified and their roles in IEIs predisposing to infectious diseases elucidated. These authors explain mechanisms involved in the 20 known defects involving IL-17–mediated immunity identified in chronic mucocutaneous candidiasis and predisposition to other infections. On the other hand, overexpression of IL-17A has been implicated in the pathogenesis of the inflammatory disorders plaque psoriasis, psoriatic arthritis, and ankylosing spondylitis and can be targeted therapeutically in these conditions with anti–IL-17 monoclonal antibodies. Diorio et al10Diorio C. Teachey D.T. Canna S.W. Rare manifestions of cytokine storm syndromes in pediatric patients.J Allergy Clin Immunol Pract. 2023; 11: 1636-1644Abstract Full Text Full Text PDF Scopus (1) Google Scholar build a discussion of the etiology, triggers, clinical and laboratory features, and management of cytokine storm syndrome around 3 cases: hemophagocytic lymphohistiocytosis secondary to malignancy in a teenage boy, a teenage girl with B-cell acute lymphocytic leukemia treated with chimeric antigen receptor T-cell therapy, and multisystem inflammatory syndrome in children (MIS-C) in a 6-year-old girl with recent family contact with SARS-CoV-2. After IVIG and steroids failed to control the inflammation in this child with severe MIS-C, there was a brisk response to anakinra that targets the IL-1 receptor and has a short half-life and excellent safety profile. Several cytokines were found to be elevated in blood, but IL-1β was below the level of detection despite the response to anakinra, highlighting the difficulty in using serum assays to implicate IL-1 in inflammatory disorders.11Lachmann H.J. Lowe P. Felix S.D. Rordorf C. Leslie K. Madhoo S. et al.In vivo regulation of interleukin 1beta in patients with cryopyrin-associated periodic syndromes.J Exp Med. 2009; 206: 1029-1036Crossref PubMed Scopus (248) Google Scholar Gray and David12Gray P.E. David C. Inborn errors of immunity and autoimmune disease.J Allergy Clin Immunol Pract. 2023; 11: 1579-1591Abstract Full Text Full Text PDF Scopus (0) Google Scholar have produced a comprehensive review of the many relationships of autoimmunity and IEIs. They describe the autoimmune manifestations of primary immune regulatory disorders and the IEIs with features that suggest autoimmune disease. They assist readers in deciding when the diagnosis of a common autoimmune disease might productively lead to genetic testing and classify the genetic and cellular mechanisms that might lead to autoimmune disease. Information is provided to readers in distinguishing autoimmune disease from autoinflammatory disorders. The phenomenon of gain-of-function somatic mutations that can lead to autoimmune or autoinflammatory processes is presented. The article includes useful and comprehensive tables summarizing the content. It unravels the complex relationships between autoimmunity and defects of immunity or immune regulation. There are children, and adults, with an autoinflammatory presentation for whom a genetic or mechanistic diagnosis cannot be made and clearly do not have an infectious process; a group of such patients with aphthous stomatitis, pharyngitis, and adenitis in addition to periodic fever (PFAPA) are often referred for immunological evaluation and are discussed by Hausman et al.13Hausman J. Dedeoglu F. Broderick L. PFAPA (periodic fever, aphthous stomatitis, pharyngitis, adenitis) syndrome and syndrome of unexplained recurrent fevers in children and adults.J Allergy Clin Immunol Pract. 2023; 11: 1676-1687Abstract Full Text Full Text PDF Scopus (1) Google Scholar No genetic or mechanistic cause has been identified in these patients. These authors provide the criteria for classifying patients in this way and detail the (transient) laboratory features seen and how these patients can be distinguished from those with well-defined autoinflammatory disorders with a known genetic basis. They have reviewed current guidelines for prophylaxis and treatment and summarize the limited clinical trial data available. They discuss the role of tonsillectomy in children with PFAPA and present the differences between PFAPA in children and adults. Hemopoietic stem cell transplantation was first shown to restore immune function in severe combined immunodeficiency (SCID) in the late 1960s, and many other IEIs have been treated in this way over the ensuing 5 decades. However, many patients with IEIs cannot be managed in this way either because a suitable donor cannot be found or because their condition is not amenable to such cellular therapy. Arlabosse et al14Arlabosse T. Booth C. Candotti F. Gene therapy for inborn errors of immunity.J Allergy Clin Immunol Pract. 2023; 11: 1592-1601Abstract Full Text Full Text PDF Scopus (1) Google Scholar have reviewed GT for IEIs and explain that gene correction of autologous hematopoietic stem cells may provide the gene-corrected progeny with a selective advantage while avoiding the need for donor searches and the risks of graft-versus-host disease. Unlike monogenetic disorders of solid structures, in IEIs the gene correction procedure can be carried out ex vivo. Disorders in which GT has been successfully applied include ADA deficiency and other forms of SCID, Wiskott-Aldrich syndrome, and neutrophil function defects. The challenges are considerable including improving the safety of integrating viral vectors and avoiding the risk of genotoxicity. It is envisaged that gene editing technology such as that based on CRISPR/Cas9 may eventually provide solutions where vector-mediated GT is inappropriate, for example, in diseases caused by dominant negative mutations.15Pavel-Dinu M. Borna S. Bacchetta R. Rare immune diseases paving the road for genome editing-based precision medicine.Front Genome Ed. 2023; 51114996Crossref PubMed Google Scholar We expect the 10 theme issue articles discussed above to demonstrate important advances in our knowledge and understanding of IEIs and related disorders. These articles will be of interest to clinical immunologists providing care for adults or children and to anyone interested in this expanding group of disorders that have provided important insights into cells, molecules, and pathways of the immune system. Updated Management Guidelines for Adenosine Deaminase DeficiencyThe Journal of Allergy and Clinical Immunology: In PracticeVol. 11Issue 6PreviewInherited defects in the adenosine deaminase (ADA) gene typically cause severe combined immunodeficiency. In addition to infections, ADA-deficient patients can present with neurodevelopmental, behavioral, hearing, skeletal, lung, heart, skin, kidney, urogenital, and liver abnormalities. Some patients also suffer from autoimmunity and malignancies. In recent years, there have been remarkable advances in the management of ADA deficiency. Most ADA-deficient patients can be identified by newborn screening for severe combined immunodeficiency, which facilitates early diagnosis and treatment of asymptomatic infants. Full-Text PDF Gene Therapy for Inborn Errors of ImmunityThe Journal of Allergy and Clinical Immunology: In PracticeVol. 11Issue 6PreviewIn the early 1990s, gene therapy (GT) entered the clinical arena as an alternative to hematopoietic stem cell transplantation for forms of inborn errors of immunity (IEIs) that are not medically manageable because of their severity. In principle, the use of gene-corrected autologous hematopoietic stem cells presents several advantages over hematopoietic stem cell transplantation, including making donor searches unnecessary and avoiding the risks for graft-versus-host disease. In the past 30 years or more of clinical experience, the field has witnessed multiple examples of successful applications of GT to a number of IEIs, as well as some serious drawbacks, which have highlighted the potential genotoxicity of integrating viral vectors and stimulated important progress in the development of safer gene transfer tools. Full-Text PDF The Th17/IL-17 Axis and Host Defense Against Fungal InfectionsThe Journal of Allergy and Clinical Immunology: In PracticeVol. 11Issue 6PreviewChronic mucocutaneous candidiasis (CMC) was recognized as a primary immunodeficiency in the early 1970s. However, for almost 40 years, its genetic etiology remained unknown. The progressive molecular and cellular description of inborn errors of immunity (IEI) with syndromic CMC pointed toward a possible role of IL-17-mediated immunity in protecting against fungal infection and CMC. Since 2011, novel IEI affecting either the response to or production of IL-17A and/or IL-17F (IL-17A/F) in patients with isolated or syndromic CMC provided formal proof of the pivotal role of the IL-17 axis in mucocutaneous immunity to Candida spp, and, to a lesser extent, to Staphylococcus aureus in humans. Full-Text PDF Inborn Errors of Immunity and Autoimmune DiseaseThe Journal of Allergy and Clinical Immunology: In PracticeVol. 11Issue 6PreviewAutoimmunity may be a manifestation of inborn errors of immunity, specifically as part of the subgroup of primary immunodeficiency known as primary immune regulatory disorders. However, although making a single gene diagnosis can have important implications for prognosis and management, picking patients to screen can be difficult, against a background of a high prevalence of autoimmune disease in the population. This review compares the genetics of common polygenic and rare monogenic autoimmunity, and explores the molecular mechanisms, phenotypes, and inheritance of autoimmunity associated with primary immune regulatory disorders, highlighting the emerging importance of gain-of-function and non-germline somatic mutations. Full-Text PDF Improving Access to Therapy for Patients With Inborn Errors of Immunity: A Call to ActionThe Journal of Allergy and Clinical Immunology: In PracticeVol. 11Issue 6PreviewBreakthroughs in sequencing technology, targeted immunotherapy, and immune reconstituting treatment have increased the pool of patients with inborn errors of immunity, requiring expertise from clinical immunologists. A growing category of immunodeficiency, presenting as primary immune regulatory disorder and secondary immunodeficiency due to targeted immune therapy for cancer and autoimmunity, has added to the growing burden of patients needing access to immune-supportive therapy. The confluence of a growing population of patients needing a clinical immunologist, complex payer structures, and inadequate health care representation will exacerbate current problems with access to therapy. Full-Text PDF Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis Syndrome and Syndrome of Unexplained Recurrent Fevers in Children and AdultsThe Journal of Allergy and Clinical Immunology: In PracticeVol. 11Issue 6PreviewChildren and adults with autoinflammatory disorders, who often experience recurrent fevers, rashes, cold-induced symptoms, conjunctivitis, lymphadenopathy, recurrent infections, aphthous stomatitis, and abnormal blood cell counts, may present to the allergist/immunologist because the symptoms mimic allergies and disorders of immunity. In recent years, there has been increased recognition of non-monogenic autoinflammatory disorders, including periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome and syndrome of undifferentiated recurrent fevers. Full-Text PDF Open AccessIntravenous Immunoglobulin: Mechanism of Action in Autoimmune and Inflammatory ConditionsThe Journal of Allergy and Clinical Immunology: In PracticeVol. 11Issue 6PreviewIntravenous immunoglobulin (IVIG) is the mainstay of therapy for humoral immune deficiencies and numerous inflammatory disorders. Although the use of IVIG may be supplanted by several targeted therapies to cytokines, the ability of polyclonal normal IgG to act as an effector molecule as well as a regulatory molecule is a clear example of the polyfunctionality of IVIG. This article will address the mechanism of action of IVIG in a number of important conditions that are otherwise resistant to treatment. Full-Text PDF The Rapidly Expanding Genetic Spectrum of Common Variable Immunodeficiency–Like DisordersThe Journal of Allergy and Clinical Immunology: In PracticeVol. 11Issue 6PreviewThe understanding of common variable immunodeficiency disorders (CVID) is in evolution. CVID was previously a diagnosis of exclusion. New diagnostic criteria have allowed the disorder to be identified with greater precision. With the advent of next-generation sequencing (NGS), it has become apparent that an increasing number of patients with a CVID phenotype have a causative genetic variant. If a pathogenic variant is identified, these patients are removed from the overarching diagnosis of CVID and are deemed to have a CVID-like disorder. Full-Text PDF Inborn Errors of Immunity: A Role for Functional Testing and Flow Cytometry in Aiding Clinical DiagnosisThe Journal of Allergy and Clinical Immunology: In PracticeVol. 11Issue 6PreviewWith the exponential discovery of new inborn errors of immunity (IEI), it is becoming increasingly difficult to differentiate between a number of the more recently defined disorders. This is compounded by the fact that although IEI primarily present with immunodeficiency, the spectrum of disease is broad and often extends to features typical of autoimmunity, autoinflammation, atopic disease, and/or malignancy. Here we use case studies to discuss the laboratory and genetic tests used that ultimately led to the specific diagnoses. Full-Text PDF Cytokine Storm Syndromes in Pediatric PatientsThe Journal of Allergy and Clinical Immunology: In PracticeVol. 11Issue 6PreviewCytokine storm syndromes (CSS) represent a diverse group of disorders characterized by severe overactivation of the immune system. In the majority of patients, CSS arise from a combination of host factors, including genetic risk and predisposing conditions, and acute triggers such as infections. CSS present differently in adults than in children, who are more likely to present with monogenic forms of these disorders. Individual CSS are rare, but in aggregate represent an important cause of severe illness in both children and adults. Full-Text PDF" @default.
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• W4366753681 title "Must Reads for Clinicians Seeking a Better Understanding of Primary Immune Deficiency Disorders and Related Disorders" @default.
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