Archive for the tag: immunodeficiency

IMMUNODEFICIENCIES | IMMUNODEFICIENCY DISORDERS

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Immunodeficiency means immune system is unable to protect the host from disease causing agents or from malignant cells.

#agaricus #immunodeficiency #immunodeficiencydisorders #primaryimmunodeficiency #secondaryimmunodeficiencies

PRIMARY IMMUNODEFICIENCY DISORDERS
https://youtu.be/-azY18Nz6u4

DENDRITIC CELL
https://youtu.be/DJ5On8GRwZw

AGRANULOCYTES
https://youtu.be/fMTpLypZsXA

GRANLOCYTES
https://youtu.be/YFeUI2-jiAY

PHAGOCYTOSIS
https://youtu.be/IoV7f_Iz5-U

Reference
https://amzn.to/3L6VASR
https://amzn.to/37Qg8AJ

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 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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Warning from German Health Minister!! – Immunodeficiency after COVID infection

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Headline NTV/Politics – 21st January 2023:

Lauterbach warns of incurable immune deficiency caused by Corona
https://www.n-tv.de/politik/Lauterbach-warnt-vor-unheilbarer-Immunschwaeche-durch-Corona-article23860527.html
(Translate to English)

SARS-CoV-2 infection causes immunodeficiency in recovered patients by downregulating CD19 expression in B cells via enhancing B-cell metabolism
https://www.nature.com/articles/s41392-021-00749-3

The bigger question is, why now??

Read the explanation on Substack:
https://philipmcmillan.substack.com/p/warning-from-german-health-minister
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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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Human Immunodeficiency Virus (HIV)

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Human Immunodeficiency Virus (HIV) is quite the infamous virus, which rose to notoriety in the 1980s once it was discovered to be the cause of AIDS, a terrible disorder of the immune system. HIV is a retrovirus, so what does that mean, and how does that make the virus special? What does it do, and precisely how does it cause AIDS? This is good information for anyone to know, so let’s get a closer look now.

Script by Kellie Vinal

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Autoimmunity & Immunodeficiency – What's the Relationship?

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IDF 2015 National Conference session, “Autoimmunity & Immunodeficiency – What’s the Relationship?” was presented by Kathleen Sullivan, MD, PhD on June 26, 2015.

SCID (Severe combined immunodeficiency) || symptoms and immunology || Immunodeficiency

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Severe combined immunodeficiency (SCID) is a group of rare disorders caused by mutations in different genes involved in the development and function of infection-fighting immune cells. Infants with SCID appear healthy at birth but are highly susceptible to severe infections.

Severe combined immunodeficiency – A deadly combination of defects of T & B lymphocytes + Natural killer cells

Its a primary immunodeficiency (inherited in the family) affecting T lymphoocytes, B lymphocytes and Natural killer cells in different combinations.

These children die within one year without a bone marrow transplantation.There have been cases like “David the bubble boy” who survived for 12 years in a sterile chamber isolated from pathogens.

Patients are small babies that suffers from fungal, bacterial, or viral infections since their immune system is not functioning as it should.

The symptoms can be:
recurrent infections resistant to antibiotics,
failure to thrive with abnormal growth curves,
diarrhea,
diaper rash,
bronchitis,
pneumonia,
otitis media,
liver abscess,
morbilliform rash,
oral candidiasis

Doctors can check the sequence of DNA to determine any mutations that would cause this disease.
One have to remember that the levels of antibodies decline after about 6 month of age if the baby fails to produce new ones for himself, since the antibodies from the mother are depleted.
So these babies may appear healthy for about 6 months.
Therefore we can check blood values of lymphocytes, natural killer cells and antibodies to easier determine which type of Severe combined immunodeficiency we are dealing with.

What are the types of this disease?
Mainly X linked recessive (IL2RG gene mutation at Xq13.1) and autosomal recessive .

The autosomal recessive have many types:
adenosine deaminase deficiency,
Jak3 intracellular kinase mutation,
Purine nucleoside phosphorylase mutation,
Omenn syndrome with RAG gene mutation,
Bare lymphocyte syndrome with MHC 2 gene mutation.

The adenosine deaminase deficiency cause an accumulation of dATP, which blocks the enzyme Ribonucleotide reductase (converts NDP to dNDP). Without dNDP there is no DNA synthesis and therefore no production of cells like T & B lymphocytes.

You can imagine that without T & B cells there is no real immunity against infections. We can see depleted zones in the hypoplastic lymphoid organs. One example being a small thymus lacking lymphocytes and Hassall’s corpuscles. On X-ray there is an abscence of thymic shadow.

The treatment?
Bone marrow transplantation and gene therapy. About 1 patient out of 5 have a risk of getting acute T cell leukemia when treated with bone marrow transplantation.

These videos are for informational purposes only. The videos are not intended to be a substitute for professional medical advice, diagnosis or treatment. Always seek the advice of a qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read or seen in any Nordic Health Organization video.
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