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Immunodisorders Flashcards

1
Q

Digeorge Syndrome (aka Thymic Hypoplasia)

A

Cx: During Embryologic development there is a failure in the 3rd and 4th pharengeal pouch development
Gene Deletion 22q11
Sx: Decreased/No T Cells in blood
Ig levels maybe normal or Low
Tetany (This tells you that the Parathyroid gland also failed to develop)
Heart and vessel defects
Facial Abnormalities

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2
Q

Sever Combined Immunodeficiency (SCID)

A

Combined B and T Cell Deficiency
AR: Adenosine Deaminase Mutation (#1)
Adenosine Accumulation which is cytotoxic to B and T Cells

Sx: Prominent Thrush and Diaper Rash (Candidiasis Albicans)
Morbilliform Rash (Measles like rash) (Maternal attack)
Decreased Immunoglobulins
NOTE: Bone Marrow Transplant will have NO chance of rejection

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3
Q

Sever Combined Immunodeficiency (SCID)

A

Combined B and T Cell Deficiency
XR: Cytokine Receptor Defect
No B or T Cell Maturation

Sx: Prominent Thrush and Diaper Rash - (Candidiasis Albicans)
Morbilliform Rash (Measles like rash) (Maternal attack)
Decreased Immunoglobulins

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4
Q

Sever Combined Immunodeficiency (SCID)

A

Combined B and T Cell Deficiency
AR: Jak 3 Mutation
Impairs MHC II protein expresion

Sx: Prominent Thrush and Diaper Rash (Candidiasis Albicans)
Morbilliform Rash (Measles like rash) (Maternal attack)
Decreased Immunoglobulins

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5
Q

Wiskott Aldrich Syndrome

A

B and T Cell Defect
Cx: XR, WASP gene defect (Wiskott Aldrich Syndrome Protein)
Sx: KEY TRIAD - Eczema, thrombocytopenia, recurrent sinopulmonary pyogenic infections.
Test: Immunoglobuline assay - decreased IgM, NORMAL IgG, Elevated IgA and IgE

Tx: Bone Marrow Transplant

NOTE: Strong chance to develop Non-Hodgkins B Cell Lymphomas

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6
Q

C5-C9 Defects

A

Normally produces the MAC Complex in the compliment cascade

Defects in any of these lead to increased risk of Neisseria infections

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7
Q

C1 Esterase Inhibitor Deficiency “Hereditary Angioedema”

A

Normally inactivates the C1 protease (Active C1)
AD
Sx: Episodes of edema of the skin and mucosal surfaces with stress or trauma
Strong suffocation risk

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8
Q

Paroxysmal Nocturnal Hemaglobinurea

A

Cx: Defect in the anchor for Decay Accelerating Factor (DAF) - Normally destabalizes C3 and C5 attachment to blood cells (RBCs, platelets, leukocytes)
Intravascular Hemolysis (RBCs are destroyed in the blood vessels)
This happens when the patient sleeps when there is normally a slight acidification of the blood. This increases C3 and C5 causing hemolysis. That means the first time the patient urinates when they wake up there may be small hints of hematuruia
Sx: Pancytopenia

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9
Q

HIV/AIDS Proteins and Progression of Disease

A

HIV Envelop Proteins - Gp120 and Gp 41
Gp120 attaches to CD4 receptors on CD4 T Cells resulting in a confirmational change
CCR5 and CXCR4 proteins on the T cells move closer and allow the virus to firmly bind and insert gp41 into host cell membrane
HIV Directly invades CD4 T Cells, eliminating this individual cells ability to assist in cell mediated immunity –> AIDS
HIV Converts viral RNA into DNA and incorporates it into host genome
Immune system mounts typical Cell and Humoral mediated response resulting in “Acute Phase Mononucleosis like symptoms”, Lasts 3-7 wks

Very slow infection rate allows dormancy period
CD4 T Cell counts usually stay above 500 (Normal) for years

CD4 T Cell count falls between 200-500, early stage of symptoms (NOT AIDS yet)

CD4 T Cell <200 officially AIDS

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10
Q

HIV/AIDS Transmission

A

In order: Sexual, IV Drugs, Vertical, Accidental needle stick.

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11
Q

HIV/AIDS Tests

A

Tests: ELISA: Detect anti-gp120 antibodies
Sensitivity is 100% (TP/(TP+FN)
IF POSITIVE –> Western blot
Detect anti-gp41 antibodies, p24, gp120, gp160 viral proteins
Specificity 100% (TN/(TN+FP)

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12
Q

Other infected cells by HIV/AIDS

A

Lymph node follicle Dendritic cells and Macrophages are Reservoir cells
Monocytes and Macrophages carry virus to the brain
Mucosal Dendritic Cells carry to B Cells (Think Strep Pneumo/Hemophilis B/Candidiasis with Decreased Humoral Response)

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13
Q

HHV-8 Infection

A 
Kaposi Sarcoma (Bright red/purple skin cancer)
Kaposi Sarcoma Progression: Flat Red/Purple discolorations-->Red/Purple raised plaques-->Red/Purple Nodules-->Ulcerations.  (Can be oral or GI)
One of these can appear in healthy individuals, AIDS patients get a lot of them at the same time. KEY difference
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14
Q

Systemic Candidiasis Albicans Infections

A

Oral Thrush #1 Fungal infection in AIDS patients

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15
Q

Toxoplasmosis

A

CNS Calcifications

Usually get from cats

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16
Q

EBV

A

CNS Lymphomas

Neoplasia

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17
Q

Cytomegalovirus

A

Blindness #1 Cx in Aids

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18
Q

Amyloid Light Chain (AA)

A

Systemic distribution
Immunoglobulin (Ig) light chains produced by plasma cells. Aka “Bence-Jones Proteins”
Associated with Multiple Myeloma **
Test: Immunoelectrophoresis (Detects Light Chains)

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19
Q

Amaloid Associated (AD)

A

Unique non-Ig proteins
Systemic circulation
Associated with Chronic Inflammation/Infection
Ankoloysis Spondalitis (HLA-B27), Inflammatory Bowel Disease, Rheumatoid Arthritis, TB

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20
Q

Aβ Amyloid

A

Organ specific (Brain)
A product of β Amyloid-Precurser (Chromosome 21)
(Alzheimers Disease)

21
Q

Dialysis β2 Microglobulin

A

Systemic b/e they deposit in organs - cause inflammation
High in renal patients on dialysis
Cannot be filtered out by machine

22
Q

Familial Amyloidosis

A

Systemic
AR, can cause Familial Medetiranean Fever
Familial Amyloidotic Polyneurophaty (Defect in Transthyretin)

23
Q

Senile Amyloidosis

A

Specific to the heart
Normal Transthyretin
Causes Restricted Cardiomyopathy (Deposition leads to inflammation–>Tissue damage)

24
Q

Isolated IgA

A

1 Immunodeficiency disorder (most asymptomatic)

Sx: Decreased IgA, sinopulmonary pyogenic infections more likely
** Anaphalyxis if exposed to blood products containing IgA antibodies. Blood transfusion –> Shock

25
Hyper IgM Syndrome
XR (70%) AR (30%) Cx: CD4 Tcell CD40 ligand defect (XR); B cell CD40 receptor defect (AR) Sx: pulmonary infection with pneumocysitis jeroveci (AIDS)
26
Common Variable Immunodeficiency "Adult Immunodeficiency Disorder"
No gender differentiation; occurs much later in life. Cx: Defect in B cell maturation Sx: Sinopulmonary pyogenic infections
27
Bruton's Agammaglobulinema
Male Cx: Failure of pre B cells to become mature B cells (NO immunoglobulins), caused by defect in bruton's tyrosine kinase (BTK) XR Sx: Not until 6mo. of age due to presence of maternal antibodies. Constant infections Test: no immunoglobulins
28
Graft Vs. Host Disease
Requires Immunocompetent CD 8 T Cells implanted into the host (Think Bone Marrow #1 cause, or Liver #2 cause) Acute: CD 8T cells attack host leading to desquamation, small bile ducts are destroyed (jaundice) and mucosal desquamation (bloody diarrhea) Chronic: CD 8T cells still responsible but present insidiously causing systemic fibrosis - pulmonary interstitial fibrosis, skin calcifications, and raynauds. (not systemic scleroderma due to lack of hands and face hardening)
29
Hyperacute Rejection (Type II Hypersensitivity)
Minutes to hours Preformed antibodies and compliment system attack graft Cytokine INF-γ recruits macrophages and B Cells while C5a recruits neutrophils
30
Acute Rejections - humerol/ab mediated
1-2 month onset Humerol/Antibody Mediated (Type II Hypersensitivity), Results in a vasculitis Localized damage from antibody attachments and immune cell recruitment.Growth factor release recruits fibroblasts Fibrosis due to thickened vascular intima w/ monocytic and foamy macrophage infiltrates (Similar histology to Atherosclerosis) Intravascular Thromboses --> Necrotizing vasculitis
31
Acute transplant rejection - Cellular/Tcell mediated rejection
Cellular/T Cell Mediated Rejection Type IV Hypersensitivity Reaction CD4 T cells recognize graft and release cytokines Increase in host macrophages and CD8 T Cell proliferation Cell apoptosis  hemorrhages
32
Chronic Rejection
Irreversible 4-6 months (can take years) Continued vascular injury (Think of inside the cell and all the things that are not normally expressed but still potential foreign to the host) Slowly develops internal fibrosis throughout the organ Leads to lumen obliteration and ischemic tissue loss and death of the organ
33
Polyarteritis Nodosa
More common in men Sx: necrotizing vasculitis (vessels at all stages of acute and chronic inflammation and healing) resulting in renal failure, myocardial infarction, bloody diarrhea, ulcers Spares the lungs
34
Mixed connective tissue disease
Sx: Mix of SLE, Polymyositis, Systemic Sclerosis Test: Anti-RNP (Ribonucleoprotein) aka: Anti-U1RNP)
35
Polymyositis
Women Polymyositis Cx: T Cell Mediated Tissue Death Sx: Muscle pain and atrophy Muscle Weakness Large Muscles (Shoulder’s #1) Test: Serum CK is increased (Muscle Death)
36
Dermatomyositis
Cx: Antibody Mediated Tissue Death Sx: Heliotropic Eyes “raccoon eyes” (Upper Eyelids with Edema) Gottron’s Patches (Purple Papules over Knuckles and Phalangeal Joints, NOTE These are DISTAL joints) Muscle Pain and atrophy Muscle Weakness Large PROXIMAL Muslces (Shoulder’s #1) Test: Serum CK is increased (Muscle Death)
37
CREST Syndrome “Limited Sclerosis”
``` Still Collagen Deposition like Systemic Sclerosis Sx: Calcinosis Raynaud’s Esophageal Dismotility Sclerodactyly (Taut Shiny skin) Telangiectasia – blood vessels Test: Anti-Centromere Antibodies ```
38
Systemic Sclerosis “Diffuse Scleroderma”
Small Blood vessels are damaged and ischemic causing growth factor to release resulting in an increase in fibroblast recruitment causing collagen production. Cx: Excess Collagen in the Skin, (hence scleroDERMA), GI (Malabsorption), Kidney (Vasculitis -->Kidney Failure), Lungs Sx: Peripheral Vasculitis --> Raynauds (1st sign) Tissue Death --> Tissue Calcification (loss of Elastin and many other components of skin elasticity) Tightened facial features (Pathognomonic) and Claw Like Hands Pulmonary Interstitial Fibrosis (#1 Cause of Death) Test: Anti-Scl 70 (AKA: Anti-Topoisomerase antibodies)
39
Sjogren’s Syndrome
Women, Strong association with Rheumatoid Arthritis Sx: Dry Eyes-->Keratoconjunctivitis (cornea and conjunctiva are infected), Dry Mouth (Xerostomia), Parotid Gland Enlargement (due to antibody deposition/Fibrosis), Fibrosis of Lacrimal and Salivary Glands Tests: Anti-SS-A (Ro, Speckled), Anti-SS-B (La, Speckled), Lip Biopsy REQUIRED for confirmed diagnosis of Sjogrens (Severe fibrosis in small salivary ducts)
40
Rheumatoid Arthritis
Test: Anti-IgG Type III Hypersensitivity reaction Strong association with Sjogren’s Syndrome
41
Drug Induced Lupus
Associated Drugs: Procainamide (#1), Hydralazine, Isoniazide Sx: Possible Renal and/or CNS involvement Will stop once the drug is removed Test: Anti-Histone antibodies
42
Discoid Lupus Erythamtosis
Aka “Chronic Cutaneous Lupus, Type III Hypersensitivity Sx: Allopecia, Skin plaques, malar rash, photosensitiviy Localized to skin pathologies only
43
Systemic Lupus Erythamatosis (SLE)
(Type III Hypersensitivity) Key points: Blacks and Women dominate, Chromosome 6 (HLA-DQ) w/ Environmental onset and exacerbation Tests: ANA Screen #1 Choice Subsequently test for Anti-dsDNA #1 (Rimmed), Anti-Smith (Speckled), anti-SS-A (Ro, IgG), Anti-Phospholipid (Binds cardiolipin --> + Syphilis test) SX: Renal: Antibodies deposit in kidneys --> Nephrotic Syndrome (Diffuse Proliferative Glomerulonephritis) #1 Cause of Death in SLE Serositis: Pleuritis --> Pleural Effusions and Fibrosis Pericarditis-->Fibrious Pericarditis Hematological Disorders (Thrombocytopenia, Leukopenia, Autoimmune Hemolytic Anemia) Arthritis: NO joint deformation Liebmann-Sacks Endocarditis – Specific to SLE
44
ANA (Anti-Nuclear Antigen) Testing - Homogenous
Anti-Chromatin component or Anti-Histone components
45
ANA (Anti-Nuclear Antigen) Testing - Rim/peripheral
Anti-double stranded DNA (dsDNA)(= SLE)
46
ANA (Anti-Nuclear Antigen) Testing - Speckled
Anti-histone, anti-ribonucleotide, anti-Smith (Sm), Anti SS-A (Ro), Anti SS-B (La)
47
ANA (Anti-Nuclear Antigen) Testing - Nucleolar
Anti-RNA
48
IPEX
Normal CD4 T Cells that express CD25 and Foxp3 are T17 cells (regular T cells) Immune disregulation, Polyendocrinopathy (many endocrine diseases), Enteropathy, X-Linked A defect in Foxp3 leads to IPEX disease Defect in Peripheral Tolerance

Pathology (5 decks)

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