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Immunological Reviews

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https://read.qxmd.com/read/30565252/the-clinical-and-mechanistic-intersection-of-primary-atopic-disorders-and-inborn-errors-of-growth-and-metabolism
#1
REVIEW
Jonathan J Lyons, Joshua D Milner
Dynamic changes in metabolism have long been understood as critical for both the initiation and maintenance of innate and adaptive immune responses. A number of recent advances have clarified details of how metabolic pathways can specifically affect cellular function in immune cells. Critical to this understanding is ongoing study of the congenital disorders of glycosylation and other genetic disorders of metabolism that lead to altered immune function in humans. While there are a number of immune phenotypes associated with metabolic derangements caused by single gene disorders, several genetic mutations have begun to link discrete alterations in metabolism and growth specifically with allergic disease...
January 2019: Immunological Reviews
https://read.qxmd.com/read/30565251/primary-immunodeficiencies-caused-by-mutations-in-actin-regulatory-proteins
#2
REVIEW
Erin Janssen, Raif S Geha
The identification of patients with monogenic gene defects have illuminated the function of different proteins in the immune system, including proteins that regulate the actin cytoskeleton. Many of these actin regulatory proteins are exclusively expressed in leukocytes and regulate the formation and branching of actin filaments. Their absence or abnormal function leads to defects in immune cell shape, cellular projections, migration, and signaling. Through the study of patients' mutations and generation of mouse models that recapitulate the patients' phenotypes, our laboratory and others have gained a better understanding of the role these proteins play in cell biology and the underlying pathogenesis of immunodeficiencies and immune dysregulatory syndromes...
January 2019: Immunological Reviews
https://read.qxmd.com/read/30565250/insights-into-immunity-from-clinical-and-basic-science-studies-of-dock8-immunodeficiency-syndrome
#3
REVIEW
Helen C Su, Huie Jing, Pam Angelus, Alexandra F Freeman
DOCK8 immunodeficiency syndrome (DIDS) is a progressive combined immunodeficiency that can be distinguished from other combined immunodeficiencies or hyperimmunoglobulinemia E syndromes in featuring (a) profound susceptibility to virus infections of the skin, with associated skin cancers, and (b) severe food allergies. The DOCK8 locus has many repetitive sequence elements that predispose to the generation of large germline deletions as well as recombination-mediated somatic DNA repair. Residual DOCK8 protein contributes to the variable disease phenotype...
January 2019: Immunological Reviews
https://read.qxmd.com/read/30565249/chromosome-22q11-2-deletion-syndrome-and-digeorge-syndrome
#4
REVIEW
Kathleen E Sullivan
Chromosome 22q11.2 deletion syndrome is the most common microdeletion syndrome in humans. The effects are protean and highly variable, making a unified approach difficult. Nevertheless, commonalities have been identified and white papers with recommended evaluations and anticipatory guidance have been published. This review will cover the immune system in detail and discuss both the primary features and the secondary features related to thymic hypoplasia. A brief discussion of the other organ system involvement will be provided for context...
January 2019: Immunological Reviews
https://read.qxmd.com/read/30565248/introduction-continuing-insights-into-the-healthy-and-diseased-immune-system-through-human-genetic-investigation
#5
Michael J Lenardo, Steven M Holland
No abstract text is available yet for this article.
January 2019: Immunological Reviews
https://read.qxmd.com/read/30565247/common-variable-immune-deficiency-dissection-of-the-variable
#6
REVIEW
Charlotte Cunningham-Rundles
Starting about 60 years ago, a number of reports appeared that outlined the severe clinical course of a few adult subjects with profound hypogammaglobinemia. Puzzled by the lack of family history and adult onset of symptoms in most, the name "acquired" hypogammaglobinemia was given, but later altered to the current name common variable immune deficiency. Pathology reports remarked on the loss of lymph node architecture and paucity of plasma cells in lymphoid tissues in these subjects. While characterized by reduced serum IgG and IgA and often IgM, and thus classified among the B-cell defects, an increasing number of cellular defects in these patients have been recognized over time...
January 2019: Immunological Reviews
https://read.qxmd.com/read/30565246/zero-tolerance-a-perspective-on-monogenic-disorders-with-defective-regulatory-t-cells-and-ibd-like-disease
#7
REVIEW
Ussama M Abdel-Motal, Ahmad Al-Shaibi, Mamoun Elawad, Bernice Lo
Recently, several studies have investigated a number of rare monogenic autoimmune disorders, in which the causative genetic defects were identified and found to affect the development or function of regulatory T cells (Tregs). The studies of these disorders have facilitated a deeper understanding of the mechanisms involved in immune regulation and tolerance. Furthermore, these studies have highlighted the importance of Tregs in maintaining homeostasis at the mucosal interface between the host and microbiome...
January 2019: Immunological Reviews
https://read.qxmd.com/read/30565245/primary-immunodeficiencies-reveal-the-essential-role-of-tissue-neutrophils-in-periodontitis
#8
REVIEW
Lakmali M Silva, Laurie Brenchley, Niki M Moutsopoulos
Periodontitis is a common human inflammatory disease. In this condition, microbiota trigger excessive inflammation in oral mucosal tissues surrounding the dentition, resulting in destruction of tooth-supporting structures (connective tissue and bone). While susceptibility factors for common forms of periodontitis are not clearly understood, studies in patients with single genetic defects reveal a critical role for tissue neutrophils in disease susceptibility. Indeed, various genetic defects in the development, egress from the bone marrow, chemotaxis, and extravasation are clearly linked to aggressive/severe periodontitis at an early age...
January 2019: Immunological Reviews
https://read.qxmd.com/read/30565244/rag-gene-defects-at-the-verge-of-immunodeficiency-and-immune-dysregulation
#9
REVIEW
Anna Villa, Luigi D Notarangelo
Mutations of the recombinase activating genes (RAG) in humans underlie a broad spectrum of clinical and immunological phenotypes that reflect different degrees of impairment of T- and B-cell development and alterations of mechanisms of central and peripheral tolerance. Recent studies have shown that this phenotypic heterogeneity correlates, albeit imperfectly, with different levels of recombination activity of the mutant RAG proteins. Furthermore, studies in patients and in newly developed animal models carrying hypomorphic RAG mutations have disclosed various mechanisms underlying immune dysregulation in this condition...
January 2019: Immunological Reviews
https://read.qxmd.com/read/30565243/fas-and-ras-related-apoptosis-defects-from-autoimmunity-to-leukemia
#10
REVIEW
Sonia Meynier, Frédéric Rieux-Laucat
The human adaptive immune system recognizes almost all the pathogens that we encounter and all the tumor antigens that may arise during our lifetime. Primary immunodeficiencies affecting lymphocyte development or function therefore lead to severe infections and tumor susceptibility. Furthermore, the fact that autoimmunity is a frequent feature of primary immunodeficiencies reveals a third function of the adaptive immune system: its self-regulation. Indeed, the generation of a broad repertoire of antigen receptors (via a unique strategy of random somatic rearrangements of gene segments in T cell and B cell receptor loci) inevitably creates receptors with specificity for self-antigens and thus leads to the presence of autoreactive lymphocytes...
January 2019: Immunological Reviews
https://read.qxmd.com/read/30565242/newborn-screening-for-severe-combined-immunodeficiency-and-t-cell-lymphopenia
#11
REVIEW
Jennifer M Puck
The development of a T cell receptor excision circle (TREC) assay utilizing dried blood spots (DBS) made possible universal newborn screening (NBS) for severe combined immunodeficiency (SCID) as a public health measure. Upon being flagged by an abnormal screening test in a SCID screening program, an infant can receive further diagnostic testing for SCID in the neonatal period, prior to onset of infectious complications, to permit immediate institution of protective measures and definitive, life-saving treatment to establish a functional immune system...
January 2019: Immunological Reviews
https://read.qxmd.com/read/30565241/emerging-insights-into-human-health-and-nk-cell-biology-from-the-study-of-nk-cell-deficiencies
#12
REVIEW
Emily M Mace, Jordan S Orange
Human NK cells are innate immune effectors that play a critical roles in the control of viral infection and malignancy. The importance of their homeostasis and function can be demonstrated by the study of patients with primary immunodeficiencies (PIDs), which are part of the family of diseases known as inborn defects of immunity. While NK cells are affected in many PIDs in ways that may contribute to a patient's clinical phenotype, a small number of PIDs have an NK cell abnormality as their major immunological defect...
January 2019: Immunological Reviews
https://read.qxmd.com/read/30565240/lessons-from-primary-immunodeficiencies-autoimmune-regulator-and-autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy
#13
REVIEW
Gregory M Constantine, Michail S Lionakis
The discovery of the autoimmune regulator (AIRE) protein and the delineation of its critical contributions in the establishment of central immune tolerance has significantly expanded our understanding of the immunological mechanisms that protect from the development of autoimmune disease. The parallel identification and characterization of patient cohorts with the monogenic disorder autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), which is typically caused by biallelic AIRE mutations, has underscored the critical contribution of AIRE in fungal immune surveillance at mucosal surfaces and in prevention of multiorgan autoimmunity in humans...
January 2019: Immunological Reviews
https://read.qxmd.com/read/30565239/what-did-we-learn-from-ctla-4-insufficiency-on-the-human-immune-system
#14
REVIEW
Noriko Mitsuiki, Charlotte Schwab, Bodo Grimbacher
Cytotoxic-T-lymphocyte-antigen-4 (CTLA-4) is a negative immune regulator constitutively expressed on regulatory T (Treg) cells and upregulated on activated T cells. CTLA-4 inhibits T cell activation by various suppressive functions including competition with CD28, regulation of the inhibitory function of Treg cells, such as transendocytosis, and the control of adhesion and motility. Intrinsic CTLA-4 signaling has been controversially discussed, but so far no distinct signaling pathway has been identified. The CTLA-4-mediated Treg suppression plays an important role in the maintenance of peripheral tolerance and the prevention of autoimmune diseases...
January 2019: Immunological Reviews
https://read.qxmd.com/read/30565238/whim-syndrome-immunopathogenesis-treatment-and-cure-strategies
#15
REVIEW
David H McDermott, Philip M Murphy
WHIM syndrome is a rare, autosomal dominant immunodeficiency which is named for the four key manifestations: Warts, Hypogammaglobulinemia, Infections, and Myelokathexis. It results from heterozygous gain-of-function mutations in the chemokine receptor CXCR4 which is widely expressed on leukocytes and has profound influences on immune system homeostasis and organogenesis. New treatments for the disease using drugs to reduce CXCR4 function are excellent examples of precision medicine. Since CXCR4 and its ligand CXCL12 play an important role in a variety of infectious, inflammatory, autoimmune, and malignant diseases, the study of WHIM syndrome provides important insights into both the physiologic and disease roles of these molecules...
January 2019: Immunological Reviews
https://read.qxmd.com/read/30565237/early-onset-inflammatory-bowel-disease-as-a-model-disease-to-identify-key-regulators-of-immune-homeostasis-mechanisms
#16
REVIEW
Julia Pazmandi, Artem Kalinichenko, Rico Chandra Ardy, Kaan Boztug
Rare, monogenetic diseases present unique models to dissect gene functions and biological pathways, concomitantly enhancing our understanding of the etiology of complex (and often more common) traits. Although inflammatory bowel disease (IBD) is a generally prototypic complex disease, it can also manifest in an early-onset, monogenic fashion, often following Mendelian modes of inheritance. Recent advances in genomic technologies have spurred the identification of genetic defects underlying rare, very early-onset IBD (VEO-IBD) as a disease subgroup driven by strong genetic influence, pinpointing key players in the delicate homeostasis of the immune system in the gut and illustrating the intimate relationships between bowel inflammation, systemic immune dysregulation, and primary immunodeficiency with increased susceptibility to infections...
January 2019: Immunological Reviews
https://read.qxmd.com/read/30565236/chaple-syndrome-uncovers-the-primary-role-of-complement-in-a-familial-form-of-waldmann-s-disease
#17
REVIEW
Ahmet Ozen
Primary intestinal lymphangiectasia (PIL) or Waldmann's disease was described in 1961 as an important cause of protein-losing enteropathy (PLE). PIL can be the sole finding in rare individuals or occur as part of a multisystemic genetic syndrome. Although genetic etiologies of many lymphatic dysplasia syndromes associated with PIL have been identified, the pathogenesis of isolated PIL (with no associated syndromic features) remains unknown. Familial cases and occurrence at birth suggest genetic etiologies in certain cases...
January 2019: Immunological Reviews
https://read.qxmd.com/read/30565235/human-adenosine-deaminase-2-deficiency-a-multi-faceted-inborn-error-of-immunity
#18
REVIEW
Leen Moens, Michael Hershfield, Katrijn Arts, Ivona Aksentijevich, Isabelle Meyts
Human adenosine deaminase 1 deficiency was described in the 1970s to cause severe combined immunodeficiency. The residual adenosine deaminase activity in these patients was attributed to adenosine deaminase 2. Human adenosine deaminase type 2 deficiency (DADA2), due to biallelic deleterious mutations in the ADA2 gene, is the first described monogenic type of small- and medium-size vessel vasculitis. The phenotype of DADA2 also includes lymphoproliferation, cytopenia, and variable degrees of immunodeficiency...
January 2019: Immunological Reviews
https://read.qxmd.com/read/30294971/metabolic-regulation-of-innate-and-adaptive-lymphocyte-effector-responses
#19
REVIEW
Ann M Joseph, Laurel A Monticelli, Gregory F Sonnenberg
Innate and adaptive lymphocytes employ diverse effector programs that provide optimal immunity to pathogens and orchestrate tissue homeostasis, or conversely can become dysregulated to drive progression of chronic inflammatory diseases. Emerging evidence suggests that CD4+ T helper cell subsets and their innate counterparts, the innate lymphoid cell family, accomplish these complex biological roles by selectively programming their cellular metabolism in order to instruct distinct modules of lymphocyte differentiation, proliferation, and cytokine production...
November 2018: Immunological Reviews
https://read.qxmd.com/read/30294970/spatial-and-temporal-coordination-of-antiviral-responses-by-group-1-ilcs
#20
REVIEW
Nicholas M Adams, Joseph C Sun
Group 1 innate lymphocytes consist of a phenotypically, spatially, and functionally heterogeneous population of NK cells and ILC1s that are engaged during pathogen invasion. We are only beginning to understand the context-dependent roles that different subsets of group 1 innate lymphocytes play during homeostatic perturbations. With a focus on viral infection, this review highlights the organization and regulation of spatially and temporally distinct waves of NK cell and ILC1 responses that collectively serve to achieve optimal viral control...
November 2018: Immunological Reviews
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