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IHO Week 5 > Diseases of the Immune System 2 - Nelson > Flashcards

Diseases of the Immune System 2 - Nelson Flashcards

1
Q

Define Autoimmune Disease

A

Immune-mediated inflammatory disease in which tissue and cell injury are due to immune reactions to self-antigens.

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2
Q

What is the key underlying immune defect in autoimmune diseases?

A

Results from the loss of self-tolerance and activation of self-reactive lymphocytes

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3
Q

What are immune reactions mediated by?

A

Autoantibodies (does not always indicate autoimmune disease)
Immune Complexes
T-Cells

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4
Q

State the two key factors that combined together lead to autoimmune disease.

A

Environmental triggers

Inheritance of susceptibility genes

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5
Q

Describe some of the ways that infections can cause autoimmunity.

A 
Infections may up-regulate the expression of co-stimulators on APC’s.
Molecular Mimicry 
Viruses (EBV, HIV) 
Tissue injury 
Hygiene Hypothesis
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6
Q

How does Molecular Mimicry cause autoimmunity?

A

Offending organism expresses antigens that have the same amino acid sequence of self-antigens

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7
Q

How do viruses (EBV, HIV) cause autoimmunity?

A

Causes polyclonal B-Lymphocyte activation

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8
Q

How does tissue injury cause autoimmunity?

A

Due to the infection releasing self-antigens and structurally altering self-antigens

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9
Q

How does the Hygiene Hypothesis contribute to autoimmunity?

A

As infections become better controlled, autoimmune diseases are increasing.

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10
Q

Describe the typical clinical course of untreated autoimmune disease.

A

Autoimmune diseases may be directed at a specific organ or tissue, resulting in organ specific disease, or may be directed at widespread antigens, resulting in systemic or generalized disease; tend to be progressive.

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11
Q

Define Systemic Lupus Erythematosis (SLE).

A

Autoimmune disease involving multiple organs, characterized by the formation of multiple autoantibodies, particularly ANAs, in which injury is caused mainly by deposition of immune complexes and binding of antibodies to various cells and tissues.

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12
Q

Describe the underlying pathologic mechanism SLE.

A

Fundamental defect is the failure of mechanisms to maintain self-tolerance

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13
Q

What autoantibodies are present in SLE?

A

Anti-nuclear Antibodies (ANA), ADNA/dsDNA and Smith (Sm) antigen are virtually diagnostic.
Others: RIB (Ribosome P Antibodies), IgG

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14
Q

Most of the systemic lesions of SLE are caused by what?

A

Immune complex deposition

– Type III Hypersensitivity

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15
Q

What type of hypersensitivity are autoantibodies directed against red cells, platelets, and white cells, eventually resulting in cytopenias?

A

Type II Hypersensitivity

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16
Q

What are the potential complications of the presence of anti-phospholipid antibodies in SLE?

A

May produce a false positive syphilis test

Can prolong the partial thromboplastin time (lupus anticoagulant)

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17
Q

How do secondary anti-phospholipid antibody syndrome present?

A

Hypercoagulable state
Venous and arterial thrombosis
Spontaneous miscarriages
Cerebral ischemia

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18
Q

Why can SLE involve multiple organ systems?

A

Susceptibility genes interfere with the maintenance of self-tolerance and external triggers lead to persistence of nuclear antigens → antibody response against self-nuclear antigens

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19
Q

Describe some of the key clinical and pathologic skin features in SLE.

A

Clinical: Erythema in light exposed areas
Pathologic: IC deposition at dermoepidermal junctions

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20
Q

Describe some of the key pathologic kidney features in SLE.

A

Pathologic: IC deposition in glomeruli, tubular or peritubular capillary basement membrane, or larger blood vessels

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21
Q

Describe some of the key pathologic joint features in SLE.

A

Pathologic: non-erosive, non-deforming small joint involvement

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22
Q

Describe some of the key pathologic hematologic system features in SLE.

A

Pathologic: Fibrinous pericarditis, non-bacterial endocarditis, accelerated coronary atherosclerosis in long-term disease

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23
Q

Describe some of the key clinical lung features in SLE.

A

Pleuritis, pleural effusion, interstitial fibrosis

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24
Q

SOAP BRAIN MD = clinical features of SLE

A 
Serositis
Oral Ulcers
Arthritis
Photosensitivity, Pulmonary Fibrosis
Blood Cells
Renal, Raynauds
ANA
Immunologic (Anti-Sm, Anti-dsDNA)
Neuropsych
Malar Rash
Discoid Rash
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25
Define Rheumatoid Arthritis
Rheumatoid arthritis is a chronic systemic inflammatory disorder that primarily attacks the joints, producing a non-suppurative proliferative and inflammatory synovitis that often progresses to destruction of the articular cartilage and ankylosis of the joints.
26
Describe the underlying pathologic mechanism in rheumatoid arthritis.
Uncertain Pathogenesis, thought to be caused by exposure to an arthritogenic antigen in a genetically predisposed individual → breakdown of immunological self-tolerance and chronic inflammation reaction
27
Describe the pathologic findings seen in the involved joints.
Marked chronic papillary synovitis; dense chronic inflammatory infiltrate rich in plasma cells
28
Describe the pathologic findings seen in rheumatoid nodules.
Area of central fibrinoid necrosis surrounded by a palisade of macrophages and scattered chronic inflammatory cells
29
What autoantibodies are present in rheumatoid arthritis?
CCPs (citrullinated peptides), which are produced during inflammation, also IgG
30
Describe the typical clinical findings and symptoms of Sjogren syndrome.
Dry eyes (keratoconjunctivitis sicca) and dry mouth (xerostomia) resulting from autoimmune, immunologically mediated destruction of lacrimal and salivary glands; common in middle aged women
31
Describe the underlying pathogenesis of Sjogren syndrome.
Unknown; thought to be related to T and B cell activation in genetically susceptible individuals -- possible trigger: viral infection of salivary glands
32
What are the two types of Sjogren syndrome?
Primary Sjogren Syndrome - isolated disease | Secondary Sjogren Syndrome - associated with another autoimmune disorder
33
Describe the underlying pathology of Sjogren syndrome
Lymphocytic inflammation involving lacrimal and salivary glands, followed by fibrosis and gland atrophy as the disease develops May also see parotid gland enlargement
34
What type of neoplasm is associated with Sjogren syndrome?
Increased risk for development of MALT lymphoma
35
What antibodies are present in Sjogren syndrome?
Ribonucleoproteins SS-A/Ro and SS-B/La Antibodies
36
Define Systemic Sclerosis (Scleroderma)
A chronic disease characterized by chronic inflammation with widespread damage to small blood vessels and progressive interstitial and perivascular fibrosis of the skin and multiple organs; occurs in adults; 3:1 F:M ratio
37
Describe Diffuse Scleroderma.
Widespread skin involvement with rapid and early visceral involvement
38
Describe Limited Scleroderma.
Skin involvement confined to the fingers, forearms, and face with late visceral involvement; some develop CREST syndrome
39
What is CREST syndrome?
Anti-Centromere Antibodies Calcinosis Raynaud’s phenomenon - exaggerated vasospastic response to cold or emotional stress; discoloration of fingers, toes Esophageal dysmotility Sclerodactyly - extensive subcutaneous fibrosis due to loss of blood supply Talengiectasia
40
What antibodies are present in Systemic Sclerosis (Scleroderma)?
Scl-70 DNA Topoisomerase 1 | With CREST syndrome: Anti-CATU (anti-centromere antibodies)
41
What are the typical skin clinical and pathologic findings in Systemic Sclerosis (scleroderma)?
Sclerotic atrophy and sclerosis (sclerodactyly) in distal fingers and extending proximally Can involve the face Extensive dystrophic calcification in subcutaneous fat
42
What are the typical GI tract clinical and pathologic findings in Systemic Sclerosis (scleroderma)?
Esophageal fibrosis resulting in dysmotility with dysphagia and reflux; small bowel involvement resulting in loss of villi and dysmotility with malabsorption, cramps, and diarrhea
43
What are the typical lung clinical and pathologic findings in Systemic Sclerosis (scleroderma)?
Interstitial fibrosis | **Respiratory failure is the most common cause of death
44
What are the typical musculoskeletal system clinical and pathologic findings in Systemic Sclerosis (scleroderma)?
Non-destructive arthritis; Inflammatory myositis
45
What are the typical kidney clinical and pathologic findings in Systemic Sclerosis (scleroderma)?
Vascular thickening; hypertension
46
Define Dermatomyositis
Autoimmune disease with immunologic injury and damage to small blood vessels and capillaries in the skeletal muscle, along with skin involvement and characteristic skin rash
47
What is the clinical presentation of Dermatomyositis?
Muscle weakness (proximal and symmetric) and skin rash; underlying malignancy in 15-20% of patients; elevated creatine kinase (treated with immunosuppressive drugs)
48
What is the clinical presentation of Polymyositis?
Muscle and systemic involvement similar to dermatomyositis, but lack of skin involvement; elevated creatine kinase (treated with immunosuppressive drugs)
49
What autoantibodies are seen in Polymyositis?
Anti-Jo1, which is directed against histidyl t-RNA synthetase
50
What is the pathogenesis of Polymyositis?
Caused by immunologic injury to muscle by activated CD8+ cytotoxic T-Cells; muscles = lymphocytic inflammation; no vascular injury
51
Define Mixed Connective Tissue Disease (MCTD).
Mixed Connective Tissue Disease is an overlap of autoimmune disease with the presence of the distinctive anti-U1-RNP antibody
52
What is a primary immunodeficiency?
Congenital, genetically determined deficiency affecting T or B-Cells or defense mechanisms that presents in infancy between 6-24 months with multiple recurrent infections
53
What is a secondary immunodeficiency?
Secondary to another disease such as cancer, infection, malnutrition, immunosuppression, irradiation, chemo
54
Describe the pathogenic defect in X-Linked Aggammaglobulinemia (Burton's Aggammaglobulinemia)
Failure of B-Cell precursors (Pro-B and Pre-B cells) to develop into mature B-cells; maturational defect due to X-linked mutation which codes for cytoplasmic Bruton tyrosine kinase (Btk)
55
What are the laboratory findings for X-Linked Aggammaglobulinemia (Burton's Aggammaglobulinemia)?
Decreased or absent B cells in peripheral blood, decreased/absent Ig, no plasma cells, underdeveloped germinal centers in lymph nodes and Peyer's patches
56
What are the characteristic diagnostic symptoms of X-Linked Aggammaglobulinemia (Burton's Aggammaglobulinemia)?
X-Linked: Seen almost entirely in males | Patients present with recurrent sinopulmonary bacterial infections at 6 months of age
57
Describe the pathogenic defect in Common Variable Immunodeficiency.
Heterogenous group of disorders characterized by failure of B cells to differentiate into plasma cells → Decreased Ig production (hypogammaglobulinemia)
58
What are the laboratory findings for Common Variable Immunodeficiency?
Normal numbers of B cells in blood; no plasma cells seen | B cell lymphoid areas (germinal centers) are hyperplastic
59
What are the characteristic diagnostic symptoms of Common Variable Immunodeficiency?
Sporadic and inherited forms of disease, both sexes affected equally, symptoms later onset in childhood or adolescence/young adults Increased risk of lymphomas and gastric cancers
60
Describe the pathogenic defect in Isolated IgA Deficiency.
Failure of B-Cells to differentiate into IgA producing cells
61
What are the laboratory findings in Isolated IgA Deficiency?
Low serum and secretory IgA levels
62
What are the characteristic diagnostic symptoms of Isolated IgA Deficiency?
European descent; sinopulmonary infections and diarrhea; commonly also have deficiency of IgG2 and IgG4; respiratory tract allergies Increased risk of AI disease, anaphylactic reactions to blood transfusions
63
Describe the pathogenic defect in DiGeorge Syndrome (Thymic Hypoplasia).
T cell deficiency due to failure of development of the 3rd and 4th pharyngeal pouches; variable loss of T-Cell mediated immunity due to lack of thymus, tetany, heart defects and facial abnormalities
64
Define tetany.
Lack of parathyroid glands
65
What is the cause of DiGeorge Syndrome?
Sporadic deletion of a gene on chromosome 22q11; not familial
66
What are the laboratory findings of DiGeorge Syndrome?
Low levels of T-Cells in peripheral blood, T-cells in lymph nodes and spleen depleted
67
Describe the pathogenic defect in Hyper-IgM Syndrome
Patients are able to make IgM, but are deficient in their ability to make IgG, IgA, and IgE antibodies (defect in immunoglobulin class switching)
68
What are the laboratory findings of Hyper-IgM Syndrome?
normal IgM levels, little IgG, no IgA or IgE
69
What is the cause of Hyper-IgM Syndrome?
70% of individuals have X-linked recessive mutations in the gene encoding CD40 ligand → can’t deliver class-switching signal
70
Describe the pathogenic defect in SCID (Severe Combined Immunodeficiency)
Profound defects of both humoral and cell-mediated immunity; without hematopoietic cell transplantation, death occurs within a year.
71
What is the cause of SCID?
Most commonly, X-linked due to a mutation in the gene encoding the common gamma-chain subunit of cytokine receptors; Sometimes autosomal recessive deficiency of adenosine deaminase (ADA)
72
When the gamma-chain subunit of cytokine receptors is mutated, what happens to cytokine signaling and T-cell development?
Reduced cytokine signaling and T-cell development markedly impaired
73
If cytokine receptors are mutated, then what is the consequence for T-Cells and NK Cells?
T cells and NK cells are decreased and Ab synthesis is severely impaired due to lack of T helper cells
74
What is the cause and symptoms of Immunodeficiency with Thrombocytopenia and Eczema (Wiskott-Aldrich Syndrome)?
X-Linked Recessive Disorder with Thrombocytopenia, eczema, vulnerability to recurrent infection (deletion of B and T cells)
75
Describe the pathologic defect in Wiskott-Aldrich Syndrome
Mutations in gene encoding Wiskott-Aldrich syndrome protein (WASP) located on short arm of x-chromosome, believed to link cell membrane receptors, including antigen receptors --> causing defects in cell migration and signal transduction
76
What are the laboratory findings in Wiskott-Aldrich Syndrome?
Depletion in T-Cells with variable loss of cell-mediated immunity; antibody production to polysaccharide antigens is absent with low levels of serum IgM, IgG normal, IgA and IgE elevated
77
Describe the pathogenic defect in X-Linked Lymphoproliferative Syndrome
Inability to eliminate EBV, leading to severe/sometimes fatal infectious mononucleosis and B-cell lymphomas; most cases due to mutations in gene encoding a mlc called SLAM-associated protein (involved in activation of NK cells and T and B cells)
78
Describe the pathogenic defect in Chediak-Higashi Syndrome
Defective fusion of phagosomes and lysosomes in phagocytes
79
What are the laboratory findings of Chediak-Higashi Syndrome?
Peripheral smear for pathognomonic giant cytoplasmic granules in leukocytes
80
What are the causes of secondary immune deficiency?
``` Immunosuppressive Therapy 1) Cytotoxic therapy for Malignancy 2) Treatment of autoimmune disease 3) Bone marrow ablation prior to transplantation 4) Treatment of GVHD 5) Treatment following solid organ transplant Microbial Infection (HIV/AIDS) Malignancy 1) Hodgkins disease, CLL (hypogammaglobulinemia) 2) Multiple myeloma 3) Malignancy of solid tumors (tumor-derived immunosuppressive factors) Disorders of Biochemical Homeostasis 1) Diabetes 2) Renal insufficiency/dialysis 3) Hepatic insufficiency/cirrhosis 4) Malnutrition Autoimmune diseases Severe Burn Injury Exposure to Radiation/Toxic Chemicals Asplenia/Hyposplenism (loss of splenic macrophages) ```
81
What are the three ways that one could suspect a patient has an immunodeficiency?
Clinical History Opportunisitic Infection from a Signature Organism Repeated Infections
82
What laboratory tests you would order to assess B-cell function?
Immunoglobulin Levels to assess for antibody deficiencies
83
What laboratory tests you would order to assess T-cell function?
Flow Cytometry for cellular immunity
84
What laboratory tests you would order to assess phagocytic function?
Peripheral blood smear, genetic tests, test neutrophil function
85
What laboratory tests you would order to assess complement function?
Total serum complement (CD50)

IHO Week 5 (5 decks)

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