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Immunodeficiencies

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zijimubo1's version from 2016-12-14 01:14

Section 1

Question Answer
What is primary immunodeficiency?Disease that are inherited disorders (usually caused by a single gene defect) and come to medical attention early in life.
What is secondary immunodeficiency?Consequence of infections (HIV), autoimmunity, malignancies or the immunosuppressive effects of medications (steroids).
What are the four arms of the immune system that are associated with immunodeficiences?Innate, adaptive, phagocytes, and complelment
What antibody is present at birth?IgG
At what age do children antibody levels reach adult levels?~10 year of age
Infants with immunodeficiencies present with clinical presentations after how long?~ 3 months
Four common infections associated with immunodeficiencies?Bacterial, enterovirus, giardia, and protozoa
Most common immunodeficiencyIgA deficiency
What type of cell posses CD3?T cell
What cell type aid in clearance of INTRACELLULAR patohgens by activating macrophages?T cell
What type of cell detects viruses/fungi?T cell
What cell type detects bacterial and protozoa infections?B cell
What are clinical manifestations of SCID?Usually before 1 yr (after 3 months). Infections to viral pathogens. Diarrhea, skin rash, chronic liver disease.
What are the clinic manifestations of antibody defects?Recurrent bacterial sinopulmonary, sepsis infections. Bronchiectasis. Giardia enterovirus gastroenteritis infections. Arthritis.
What does newborn SCID screening test check for?TRECs (T cell receptor excision circles) that are a byproduct of normal T cell development when TCR genes rearrange alpha chain. SCID fail to develop T cells.
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B cell defects

Question Answer
Prolongation of IgG nadir, low IgG with normal IgA, IgM. Transient Hypogammaglobulinemia
Low serum and mucosal IgA; increased risk of mucosal infections, especially viralIgA deficiency
Low IgG with low IgA and/or IgM and IgE due to B-cell or helper T-cell defects. Increase risk of AI and lymphoma.Common Variable Immunodeficiency (CVID)
Elevated IgM; CD40/CD40L mutation; Low IgA, IgG, IgE; no response to T dependent antigens; opportunistic infectionsHyper-IgM Syndrome
BTK mutation; X-linked; no B-cell maturation; complete lack of immunoglobulinsX-linked agammaglobulinemia
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T cell defects

Question Answer
Deletion in 22q11; 3rd/4th pharyngeal pouch defect; immunodeficient in T-cells; hypoparathyroidism(low calcium), congenital heart diseaseDiGeorge Syndrome
Mutations in gamma chain (gammaC) that is receptor for IL-7 (2,4,7,9,15); T-cell development deficit; JAK3 mutationT- B+ NK- SCID 53%
Mutations in Recombination Activating Genes (RAG) 1 and 2; no rearrangment of antigen receptor genes; Ommen's Syndrome;T- B- NK+ SCID 23%
Adenosine Deaminase (ADA); accumulation of dATP toxic for lymphocytesT- B- NK- SCID 20%
Rare form of SCID with B and NK cells present; NK cells reason for difficulty of stem cell transplantationT- B+ NK+ SCID 5%
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Other defects

Phaogcyte NADPH oxidase system defect resulting in inability to generate O-; susceptible to infection w/ catalase positive
Question Answer
Triad - eczema, thrombocytopenia, recurrent infections; WASP mutation; X-linkedWiskott-Aldrich Syndrome
Lysosomal trafficking gene (LYST) defect; microtubule dysfunction in phagolysosomal fusion; albinism; silver color hairChediak-Higashi Syndrome
Deficiency in inhibitor of C1 (C1NH); autosomal dominant; hereditary angioedema; Factor XII activation leads to formation of bradykinin; localized edemaC-1 inhibitor deficiency
increased Neisseria meningitis, strep pneumoniae, H. influenza; systemic pyogenic infections by encapsulated organismsC5 - C9 deficiency
Integrin or selectin defect; Phagocycte cannot anchor and move to site of infection; NO PUS; delayed separation of umbilical cord; high levels of neutrophilsLeuckocyte Adhesion Deficiency (LAD)
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