Archive for the tag: Primary

Annual World Primary Immunodeficiency Week and Covid-19

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A primary immunodeficiency disorder compromises the immune system and prevents the body from fighting off any infection or disease. During this time of Covid-19 a strong immune system is key and those who suffer from any immunodeficiency disease could be at an increased risk. The Annual World Primary Immunodeficiency Week has this year been extended to 10 weeks from 22 April to the 1st of July to raise awareness for those living with any of these diseases. Professor Claudia Gray, Paediatric Allergy Specialist at Red Cross Children’s Hospital & UCT Lung Institute joins us this morning to tell us more about the link between PID and Covid-19.

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Primary immunodeficiency disorders

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This is an overview of primary immunodeficiency disorders.

Graphics were created or adapted from Wikimedia Commons.
This presentation was created using Google Slides.

ADDITIONAL TAGS:
Selective IgA deficiency Hyper IgM syndrome X-linked Bruton’s agammaglobulinemia Common variable immunodeficiency C1 esterase inhibitor 22q112 deletion / DiGeorge Severe combined Wiskott–Aldrich Ataxia–telangiectasia Chronic granulomatous disease Leukocyte adhesion Chédiak–Higashi IgE Job Terminal complement C5-C9 Primary disorders B-cell humoral immunity deficiencies T-cell cellular lymphocyte and cellular phagocytosis Most common primary antibody Dx ↓ levels everything else normal normal IgG IgM B cells Related to CVID → similar arrest of cell differentiation Recurrent mouth airway respiratory infxns GI Giardia treat with abx Recall – mucus membranes still works so most patients are healthy asymptomatic undiagnosed benign Rarely presents severe rapid seconds minutes anaphylactic reaction following transfusion blood or IVIG Pathophys Anti-IgA antibodies against the new foreign Stop transfusion Give IM epi +/- bronchodilators antihistamines pressors mechanical ventilation If necessary give IgA-depleted Antibody class switching differentiation doesn’t work Cause absence CD40 ligand ↑ IgA nl cells Minimal nonselective defense Increased susceptibility recurrent sinopulmonary infxns Viruses encapsulated bacteria Treatment scheduled XLA recessive males only BTK gene mutation defective Bruton tyrosine kinase impaired maturation Ig production Signs/symptoms sinopulm Deficiency in opsonizing IgG otitis sinusitis pneumonia encapsulated Pseudomonas S pneumo Haemophilus Symptoms begin at 3-6 months transplacental maternal fades Small lymphoid tissue tonsils adenoids spleen lymph nodes enteroviral infxn Deficient response Diagnosis IgE Confirm flow cytometry B-cells low might say CD20+ low T-cells normal/high SCIG IVIG maybe prophylactic CVID abnormal plasma Decreased Presents adults children 15-35 yo as early puberty Males females resp lung sinus ear salmonella Campylobacter Giardia presentation lungs bronchiectasis fibrosis IBD-esque chronic diarrhea Less form XLA Need least two No vaccinations Upper lower Normal number B-cells but aka thymic aplasia velocardiofacial syndrome autosomal dominant CATCH-22 syndrome Cardiac defects tet fallot trunc art VSD Abnormal facial features micrognathia wide-spaced eyes low-set ears Thymic hypoplasia absent shadow T-cell deficiency Cleft palate craniofacial deformities Hypocalcemia hypoparathyroid seizures newborn tetany within chromosome 22q11 dev pharyngeal pouches Sx Infections viruses fungus Pneumocystis PCP PCP prophylaxis TMP/SMX bone marrow stem transplant Cure thymus SCID defect often adenosine deaminase failed development dysfunction Usually “bubble boy” no immune system starting 6 months Functionally AIDS Infections bacterial opportunistic PCP crypto candida toxo TB herpes chickenpox CMV PML diarrhea failure thrive Tx TMP/SMX English Wikipedia CC0 via Wikimedia Commons WAS protein Impaired cytoskeleton changes white cells platelets WIPE Infections thrombocytopenic Purpura Fig A Eczema B Bleeding hematoma A ear atopic diseases thrombocytopenia + splenectomy Low survival rates Cerebellar ataxia Incoordination stumbling falling slurred speech Oculocutaneous telangiectasia Recessive disease DNA repair predisp malignancy specific tx IVIG XLR NAPHD oxidase anion superoxides macrophages can ingest not kill catalase-positive organisms create granulomas instead respiratory GI UT skin infections granulomas ulcerations Catalase positive organisms Staph Aspergillus Burkholderia Nocardia Serratia Immune ↑ WBC can’t clear Measure neutrophil superoxide production Flow Dihydrorhodamine nitroblue tetrazolium test negative burst daily TMP/SMX antifungal itraconazole IFN-gamma CD18 integrin leukocyte chemotaxis Neutrophils adhere vessels exit impaired extravasation proliferates skin/mucosal skin GU pulm infections pus wounds high fever Newborns omphalitis inflammation umbilical stump delayed separation cord at 2-3 weeks old Lab WBC cytokines leukocytes high neutrophils Autosomal Lysosomes fuse together large granules neutrophils Peripheral neuropathy albinism skin eyes neutropenia for infections JAK-STAT signaling impairs Th17 proliferation FATED coarse Facies prominent forehead broad nose Abscesses cold noninflammatory containing S aureus Candida retained Teeth hyper-IgE Eosinophilia Derm severe eczema ↑↑ IgE eosinophilia Th17 otherwise membrane attack complex MAC which is required lysis Susceptible gram Neisseria meningococcal gonococcal antibiotics vaccines meningococcal Assembly MAC leads pores that disrupt target leading death hereditary angioedema AD deno excess bradykinin fluid accumulates mucosa trauma stress? ACEi NSAIDs Distinct from anaphylaxis no pruritus urticaria Not allergic mediated antihistamines don’t help GI abd pain n/v/d Resp laryngospasm obstruction increased risk but related
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Primary Immunodeficiency: Introduction, Cellular Distribution & Background – Immunology | Lecturio

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This video “Primary Immunodeficiency: Introduction, Cellular Distribution & Background” is part of the Lecturio course “Immunology” ► WATCH the complete course on http://lectur.io/immunology6

► LEARN ABOUT:
– Introduction to Immunodeficiency
– Distribution of Cellular Primary Immunodeficiency Defects
– Primary Immunodeficiency Background
– X-Linked Primary Immunodeficiencies

► THE PROF:
Peter Delves, Professor Emeritus of Immunology and former Vice Dean (Education) of the Faculty of Medical Sciences at University College London, is not only editor of two encyclopedias but also author of several textbooks and laboratory manuals. His special interest lies in improving an understanding of immunology through both web-based education and face-to-face interaction.

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Primary Immunodeficiency
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Primary antibody deficiency - Common Variable Immunodeficiency (CVID) , X-linked agammaglobulinemia

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“Examples of antibody deficiencies include when you have absent B cells such as X-linked agammaglobulinemia, impaired b cells such as common variable immune deficiency (CVID) or have selective antibody deficiency with abnormalities in shape and structure such as IgA deficiency.

For suspected antibody immunodeficiency disease important to measure immunoglobulins: Serum IgA, IgM and IgG subclasses and lymphocytes count and subsets. Remember to exclude secondary cause of low Immunoglobulins”

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Lessons in Autoimmunity from the World of Primary Immunodeficiency Disease

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This webcast will review the association between type I interferons and the development of lupus and vasculitis. Alterations in immune cell signaling and autoimmunity and immune dysregulation will also be discussed. The roll of regulatory T cells in maintain immune tolerance and preventing immune dysregulation will be reviewed as well.
Visit http://www.ccfcme.org/bioviicmevideos to claim CME credit or learn more about the Biologic Therapies VII series.

The webcast features expert faculty member, Dr. Troy R. Torgerson, of Seattle Children’s Research Institute

The video was produced by the Cleveland Clinic Foundation Center for Continuing Education and RJ Fasenmyer Center for Clinical Immunology.

Interested in related CME education? Visit http://www.ccfcme.org/rheumcme
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Brief description of autoimmune diseases and immunodeficiency diseases
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