DISEASE
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MOLECULAR DEFECTS
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SYMPTOMS
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-Chronic Granulomatous Disease
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-NADPH oxidase deficiency
-Failure to generate the superoxide anion
-Nitro-blue tetrazoline test positive
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-Recurrent infections with catalase positive bacteria and fungi
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-Chediak-Higashi
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-Granule structural defect
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-Recurrent infection withbacteria, chemotactic and degranulation defects. Absent NK activity absent NK
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-Leukocyte adhesion deficiency
(Phagocyte defect)
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-Deficiency of CD18
-Cannot make LFA
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-Recurrent infection with extracellular bacterial pathogens
-Defective opsonization, adhesion, mobilization, and chemotaxis
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-Glucose 6 phosphate dehydrogenase deficiency
(Phagocyte defect)
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-Defiency of essential enzyme in monophosphate shunt
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-Same as CJD
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-X linked Hypogammaglobulinemia
(B cell defect)
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-Defiency of B cells, increased susceptibility to infections
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-CMI is intact, patients need Ig injections for the remainder of life
-No circulating B cells
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-Selective IgA deficiency
(B cell defect)
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-Repeated sinopulmonary infection
-GI disease
-Many with IgA deficienc have no symptoms
-If both Iga and IG2 subclass deficiencies, more likel to have infections
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-Treatment is antibiotics and not Ig’s
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Complement Deficiencies
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-Decrease in some complement component
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-Absence of Ig’s for opsonization and complement activation is a major problem.
-Patients present with recurrent pyogenic infections with extracellular pathogens
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DiGeorge’s Syndrome
(T cell deficiency)
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-Thymic aplasia
-Third and fouth pharyngeal pouches do not develop
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-Flat facies, low set ears
-Hypoparathyroidim tetany
-Fish mouth
-Recurrent viral and fungal infections
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Wiskott-Aldrich syndrome
(Combined immune deficiency)
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-Triad of symptoms
-X linked recessive pathology
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-Thrombocytopenia
-Eczema
-Immunodeficiency
-Prone to the development of malignant lymphomas
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Severe Combined Immunodeficiency
(Combined immunodeficiency)
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-X lnked
-Deficienies in class I, class II molecules, T cell receptors, cytokine receptors, and signal transduction molecules
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-Various infections
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Rheumatoid Arthritis
(Systemic Autoimmunity)
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-IgM against own IgG (Rheumatoid Factor)
-Immune complexes get deposited in joint
-ANA positive in some patients
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-Synovial membrane becomes proliferative
-Bone / cartilage destruction
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Systemic Lupus Erythematosis
(Systemic Autommunity)
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-Anti dsDNA antibody
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-Butterfly rash
-Hyperfammaglobulinemia
-Renal complications
-Lumpy bumpy pattern of immune complex deposts
-Primarily young women
-Malaise, fever, weight loss
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Goodpasture’s Syndrome
(Autoimmune disease)
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-Antibody against own Type IV collagen in lung and kidney basement membranes
-Linear deposits of IgG and complement in alveolar and glomerular basement
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-Kidney / lung damage
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Multiple Scleross
(Organ specific autoimmune diseases)
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-Mononuclear infiltrate with demyelination of CNS
-Immune response to myelin basic protein
-Increased IgG in spinal fluid
-Antibodies to measles
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-Motor weakess, ataxia, impaired vision, bladder dysfunction, paresthesias, mental aberrations
-Desensitization therapy under investigation ingestion of MBPs
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Myasthenia Gravis
(organ specific)
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-Interaction with AcH blocked by antibody to ACH receptors
-Loss of receptors due to endocytosis
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-Muscle weakness and fatigue; waxing and waing course
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Graves Disease
(organ specific autoimmunity)
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-Antibodies to thyrotropin receptors
-Blocks binding of TSH
-Causes proliferation of thyroid cells
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-Thyrotoxicoss
-Fatuge, nervousness, sweating, palpiations, weight loss, heat intolerance
-Increased B cells correlates with disease severity
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Type I Diabetes
(organ specific autoimmunity)
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-Islet cell antibodies
-Inability to synthesize insulin
-B cell destruction
-Anti-insulin antibodies
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-Blood glucose fluctuation
-Ketoacidsis
-Polyuria/polydipsia
-Hypertension
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Pernicious Anemia
(organ specific autoimmunity)
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-Antibodies to GIF
-Blocks transport of B12
-Loss of parietal cells
-Parietal cell antibodies
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-Platelet counts suppressed
-megaloblastic anemia
-Neurologic signs
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Idiopathic Thrombocytopenic Purpura
(organ specific autoimmunity)
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-Antibody mediated platelet destruction
-IgG to platelets removed by spleen
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-Petechiae and bleeding problems
-Suppressed platelet count
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