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25 Cards in this Set
- Front
- Back
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Phagocytic Disorders
Qualitative vs. Quantitative |
Quantitative: cells involved are few in #, but the ones present are normal. (e.g. Neutropenia, Hyposplenism).
Qualitative: there are enough cells, but they do not function properly. ▪Divided into two groups (1) Enzymatic Deficiency [CGD] (2)Caused by adhesion deficiencies (Chediak Higashi syndrome, Leukocyte Adhesion Deficiency) ▪The Hexose mono-phosphate pathway (HMP) is involved in the killing of organisms by using activated forms of Oxygen. NADPH is a cofactor involved and relies on NADPH oxidase to be oxidized. Collectively this activity is called the respiratory burst. |
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Neutropenia
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• Phagocytic Disorder, quantitative
• ↓# of neutrophils • Congenital or acquired • Neutrophils are important killing bacteria, so a deficiency causes ↑ susceptibility to bacteria. |
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Hyposplenism
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• Phagocytic Disorder, quantitative
• Spleen is defective (could have been removed surgically or deficient in function—hemolytic anemia) • Result: ↓#macrophages →↑susceptibility to infection. |
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Chronic Granulomatous Disease
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• Phagocytic Disorder, Qualitative
• Inherited as either Autosomal recessive or Z linked. • Onset is usually seen by age of 2. • Deficiency of NADPH oxidase (necessary for NADPH cofactor in Hexose mono-phosphate pathway) → no activated forms of oxygen to kill bacteria. • Patients with this disease are not able to fight infections that are catalase+/peroxidase- infections (e.g. Staphlococcus infections). • Clinical findings: lymphadenopathy, chronic lymphatic drainage, hepatosplenomegaly, and dermatitis. • Characterized by granuloma formation which occurs usually to wall off infection. There is a central area of caseous necrosis w/ a ring of macrophages & lymphocytes surrounding it. • Diagnosis made w/ nitroblue tetrazolium test (NBT). If cells are normal, they turn blue when stimulated w/ respiratory burst. If stays pink, enzyme (NADPH oxidase) is normal. |
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Leukocyte Adhesion Deficiency
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• Phagocytic Disorder, Qualitative
• Defect in LFA-1, Mac-1, gp 150/95. |
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Chediak-Hagashi Syndrome
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• Phagocytic Disorder, Qualitative
• Recurrent bacterial infection, partial oculo-cutaeous albinism. • Giant lysosomes that are defective in fusing with phagosomes to create phagolysosomes. |
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Primary Immunodeficiecy
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Present @ or near birth.
Usually inherited and genetically determined. |
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Secondary Immunodeficiency
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more comon than primary immunodeficiency.
Acquired as a result of malnutrition, autoimmune disease, protein losing states, allergic disease, viral infection [AIDS[, malignancy, or drugs (either by causing malignancy or to treat malignancy) |
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4 Components of teh Immune System that can be affected by Immunodefiency diseases (are these part of the innate/acquired system?)
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(1) Phagocytic cells (innate IS)
(2) B cells (Acquired IS) (3) T cells (Acquired IS) (4) Complement (Innate IS) |
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Agammaglobulinemia
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• B cell disorder
• X linked recessive disorder (Bruton Tyrosine Kinase—BTK gene) • B cells arrested in maturation, resulting in severe panhypogammaglobulinemia (efficiency in all 5 Igs). Because the B cells are immature, you are not making Ab. • CMI/T cells are normal. • Symptoms: >6 months due to maternally derived IgG • Infection usually caused by pyogenic encapsulated bacteria • Present w/ respiratory tract infections (otitis, sinusitis, pneumonia), skin (pyoderma), GI (diarrhea), or systemic (sepsis, meningitis, septic arthritis) • Vaccine-related polio (common w/ oral polio vaccine) |
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Common Variable Immune Deficiency (CVI)
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• B cell disorder
• Heterogeneous group of disorders with panhypogammaglobulinemia (deficient in all 5 classes of Ig). • Normal B cell #, but B cells are not making Ab. • Variable degree of T cell function/dysfunction. • Variable pattern of inheritance. • Clinical findings: -chronic upper & lower respiratory tract infections -diarrhea w/ malabsorption -hematologic abnormalities (autoimmune hemolytic anemia, pernicious anemia, leukopenia) -splenomegaly, lymphadenopathy -Associated with Rheumatoid-Arthritis-like disorder, SLE |
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Transient Hypogammaglobulinemia
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• B cell disorder
• Maternal IgG is the only Ig to cross the placenta. Full term newborn has = amounts of IgG as mother. • After birth, levels of IgG are lowest @ 2-4 months (t1/2: 20-30d). Levels of IgG should then increase physiologically. • CLINICAL PRESENTATION: Baby is still deficient in IgG 17-19 months after birth because of delay in IgG production. • Usually no need to treat with Ig because levels gradually return to normal spontaneously. |
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Selective IgA Deficiency
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• B cell disorder
• Most common immune deficiency (1: 400-600) • Usually asymptomatic but can present with chronic sinus & lung infections. • Patients should not receive gammaglobulins or whole blood because they will mount an IgA response (anti-IgA) |
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Selective IgG Deficiency
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• B cell disorder
• Total IgG is usually normal. • Selective deficiency with ≥IgG subclass. • IgG 1, 3 → deficiency associated with viral/protein Ag. • IgG 2, 4 → deficiency associated wit polysaccharide Ag. • Low IgG1 associated with hypogammaglobulinemia • Low IgG2 concentration often associated with both IgG4 & IgA deficiency. |
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Hyper IgM Syndrome
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• B cell disorder
• Defiency of CD40L ligand on CD4 T helper cells leads to inability for B cells to “class switch” from IgM to IgA, IgE, IgG. • Presents with ↑IgM, very low ↓↓IgA, IgE, IgG • Clinical findings: bacterial infections, opportunistic infections, neutropenia, hepatosplenomegaly, chronic diarrhea, intestinal tract malabsorption. |
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DiGeorge Syndrome
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• T cell Disorder
• Congenital hypoplasia or aplasia of thyus or parathyroids (lack these) • Decreased # T cells • Successfully treated w/ thymic hormones or thymus graft. • Due to failure of 3rd & 4th pharyngeal pouch development. • Presents with tetany owing to hypocalcemia, recurrent viral & fungal infections due to T cell deficiency. Congenital defects of heart & great vessels. Dysplasia (low set) ears, hypertelorism (wide-set eyes), elongated philtrum. • Deletion of 22q11 (catch 22) |
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Partial DiGeorge Syndrome
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• T cell Disorder
• Variant of DiGeorge Syndrome. • 22q11 deletion (catch 22) |
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Velo-Cardiofacial Syndrome (Shprintzen's Syndrome)
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• T cell Disorder
• Catch 22. Deletion of 22q11. • Subtle T cell abnormalities with functional Ab deficiencies. • Lymphopenia & thrombocytopenia (↑mean platelet volume). • Congenital heart disease, bird like appearance, recurrent upper respiratory infections. |
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Severe Combined Immunodeficiency Syndrome (SCID)
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• Combined B & T cell Disorder
• Onset by 6 mo of age. • Recurrent viral, bacterial, fungal, protozoal infection. • X-linked & Autosomal recessive. Associated w/ enzyme deficiencies. • B & T cell deficiency. • Failure to thrive, chronic diarrhea, chronic middle ear infections, susceptible to GVHD, variable degrees of hypogammaglobulinemia. |
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Ataxia Telangiectasia
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• Combined B & T cell Disorder
• Autosomal Recessive • Defect in DNA repair enzymes with associated IgA & IgG2 deficiency. • CMI deficiency. • Have recurrent sinopulmonary infection, cerebellar ataxia • Telangictasia (dilation of blood vessels in cornea & bulbar conjunctiva) |
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Wiskott Aldrich Syndrome
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• Combined B & T cell Disorder
• X linked defect in the ability to mount an immune response to capsular polysaccharides of bacteria • ↑IgA, IgE, ↓IgM levels • Triad of symptoms (WIPE): pyogenic infections of ear, sinus, lung. Thrombocytopenic purpura Eczema • Treatment: prophylactic Ig & antibiotics, HSCT (bone marrow transplant) |
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Hyper IgE (Job) Syndrome
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• Combined B & T cell Disorder
• ↑IgE, normal IgG, Ma, A • Poor Ab & cellular response to Ag • Presents with staph infections (skin, lung, & joints), recurrent boils |
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Chronic Mucocutaneous Candadiasis
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• Combined B & T cell Disorder
• Defective T cell function. • Persistent infection in skin, nails, & mucous membranes. |
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C3 Deficiency
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• Complement Deficiency (most common)
• Associated with Gram + Infections • Recurrent bacterial infections similar to agammaglobulinemia |
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C5-9 Deficiencies (MAC)
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• Associated with Gram-Negative Neisserial infections.
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