Autoimmune Disorders Flashcards by Ben Nye

Immunofluorescence Patterns
Homogenous, Speckled, Anti-Centromere
Antibody and Associated Disease

Homogenous: anti-DNA/anti-Smith Ab, Systemic Lupus

Speckled: anti-SSA/anti-SSB (Sjogren) anti-SCL70 (Systemic Sclerosis

Centromeric: anti-Centromere proteins CREST syndrome

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Systemic Lupus Erythematosus Manifestations

Clinical (5), Serologic (3), Pathologic (3)

Clinical: malar rash, discoid rash, arthritis, fever, edema

Serologic: hemolytic anemia, L-E cells, anti-nuclear Abs

Pathologic: Diffuse lupus nephritis, Libmann-Sacks Endocarditis, Coronary Artery Disease

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Systemic Lupus Erythematosus Etiology

Genetics (2), Immunology (3), Environment (3)

Genetics: mutations in HLA DQ and complement proteins

Immunology: B cell/Th cell self tolerance failure, TLRs to nuclear DNA/RNA, Type I interferons

Environment: UV exposure, male gender, drug induced

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Discoid Lupus Erythematosus Manifestations

Clinical and Serologic

Clinical: Discoid rash

Serologic: anti-nuclear Abs

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Drug Induced SLE Manifestations

Etiology, Serology, Genetics

Etiology: hydralazine, procainamide

Serology: anti-histone Ab

Genetics: HLA-DR4 (hydralazine), HLA-DR6 (procainamide)

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Sjogren Syndrome

Presentation (3), Histology (2), Complications (2), Diagnosis

Dry eyes, Xerostomia, Dysphagia

B/T cell invasion and fibrosis

Mikulicz syndrome, Lymphoma

Lip biopsy

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Systemic Sclerosis

Pathogenesis (3), Diffuse/Limited

T cell mediated response, microvascular injury, fibrosis

Diffuse is widespread skin and early visceral involvement

Limited is confined skin involvement and CREST progression

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CREST Syndrome Presentation (5)

Calcinosis
Raynaud's
Esophageal Dysfunction
Sclerodactyly
Telangiectasias

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Systemic Slcerosis Organ Complications

Skin (2), Alimentary (3), MSK (2), Kidneys (3), Lungs (2)

Skin: Distal sclerotic atrophy, collagen degeneration

Alimentary Tract: Collagen degeneration and fibrosis in gut, especially esophagus (GERD)

MSK: Synovial inflammation and inflammatory myositis

Kidneys: vascular lesions, HTN, renal failure

Lungs: Pulmonary HTN, fibrosis

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Mixed Connective Tissue Disease
Clinical Features (4), Serologic

Mixed SLE, Systemic Sclerosis and Polymositis features with Raynaud’s

High anti-RNP titer

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IgG4 Related Disease

Histology (3) and Complications (6)

IgG4 plasma cells, fibrosis and T cell infiltration

Autoimmune Pancreatitis
Riedel Thyroiditis
Mikulicz's 
Retroperitoneal Fibrosis
Pseudotumors
Aortitis

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Allorecognition

Direct and Indirect Pathways

Direct: MHC of donor APCs recognized by T cells

Indirect: recipient APC presents donor MHC which triggers T/B cell response

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Antibody-Mediated Rejection

Hyperacute, Acute, Chronic

Hyperacute: Preformed Abs respond to ABO Ag

Acute: MHC from donor triggers response that includes complement

Chronic: Causes donor vessel fibrosis

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Renal Allograft Rejection

Hyperacute, Acute, Chronic

Hyperacute: Ab and Neutrophil mediated, attack vessels, glomeruli and cortex

Acute: T cell mediated (endothelitis, tubulitis)
or Ab mediated (works with complement)

Chronic: NK cell mediated, shows rising creatinine, inflammation, glomerulopathy, peritubular capillaritis

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Chediak Higashi Syndrome

Pathology and Presentation (3)

Phagolysosomal fusion failure

Increased bacterial infections, giant neutrophil granules, patchy hypopigmentation

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Chronic Granulomatous Disease

Pathology and Presentation

Phagocyte oxidase defect causing decreased ROS

Macrophages walled off to contain infection which forms granuloma

MAC Deficiency

Pathology and Presentation

C5-C9 defects causing less MAC formation

Presents with Neisseria infections (meningitis)

C2 Deficiency

Presentation (3)

Increased bacterial and viral infections

mostly no clinical manifestion

Hereditary Angioedema

Pathology and Presentation (4)

C1 inhibitor deficiency

Swelling of lips/face
Corkscrew intestines
Increased bradykinin
Bronchospasm

Severe Combined Immunodeficiency

Pathology (X linked and Autosomal Recessive)

X Linked: mutation of cytokine receptor gamma chain
T cell/NK cell deficiency, nonfunctional B cells

Autosomal Recessive: Adenosine deaminase deficiency causing death of developing T cells

X Linked Agammaglobulinemia

Pathology (2) and Presentation (3)

Bruton Tyrosine Kinase mutation causing B cell deficiency

Increased infection by encapsulated bacteria, viruses and protozoa

DiGeorge Syndrome

Pathology (2) and Presentation (4)

Deletion of q11.2 band on Chromosome 22 causing pharyngeal pouches 3 and 4 to not develop

Presents with Thymic aplasia, Parathyroid aplasia (tetany), Cardiac Abnormalities, micrognathia

Hyper IgM Syndrome

Pathology (2) and Presentation (3)

Lack of CD40L or AID on Th cells causing lack of B cell class switching and maturation

Present with pyogenic infections, pneumonia, hemolytic anemia

Common Variable Immunodeficiency

Pathology and Presentation (4)

Hypogammaglobulinemia (sometimes just IgG)

Sinopulmonary infections, Granulomas, Diarrhea, Autoimmunity

Isolated IgA Deficiency | Pathology, Presentation (4) and Complication

Familial or acquired (viral) decrease in IgA levels Sinus, respiratory, UTI, GI infections Anaphylactic Reaction to blood transfusion

X Linked Lymphoproliferative Syndrome | Pathology and Presentation (2)

Mutation in SLAM Associated Protein causes inability to clear Epstein-Barr Virus Fulminant infectious mononucleosis and B cell tumors

Wiskott-Aldrich Syndrome | Pathology and Presentation (3)

X linked WASP gene mutation Thrombocytopenia, Eczema, Recurrent infections

Ataxia-Telangiectasia | Pathology and Presentation

ATM gene mutation causing IgA/IgG deficiency Ataxia, telangiectasia, neuro defects, tumors

HIV vs AIDS Classification (4)

``` Considered AIDS if: CD4+ T cell count < 200 Opportunistic Infections Secondary Neoplasms Neurological Issues ```

HIV Routes of Transmission (3) and Affected Groups

Sexual: homosexual men and heterosexual women Parenteral: hemophiliacs and IVDU Mother-Infant: Exposed in utero, at delivery or via break milk

``` AIDS Opportunistic Infections (4) and Presentation ```

Pneumocystis jiroveci: fungal pneumonia Cytomegalovirus: choriretinitis, esophagitis, colitis Candidiasis: oral, vaginal and esophageal infections Cryptosporidium: diarrhea, entiritis

AIDS | Neoplasia (3) and Presentation

Kaposi Sarcoma: vascular tumor associated with Human herpesvirus 8 Lymphoma: Hodgkin (EBV) and Primary effusion (KSHV) HPV-associated squamous carcinoma: HPV-related uterine and anal cancer

AIDS | CNS Disease Presentation (3)

Meningocephalitis Meningitis Progressive encephalopathy (HIV-associated neurocognitive disorder)

Type I Hypersensitivity Reaction | Mechanism and Examples (3)

IgE mediated Mast cell degranulation Allergies, Asthma, Anaphylaxis

Type II Hypersensitivity Reaction | Mechanisms (3) and Examples (3)

IgG Opsonized cells activate complement Hemolytic disease of the newborn Complement and FcR activation Goodpasture syndrome Anti-receptor Abs Myasthenia Gravis

Type III Hypersensitivity Reaction | Mechanism (2) and Examples (4)

Ag-Ab complexes deposited, Neutrophils cause fibrinoid necrosis Serum sickness Arthus reaction Systemic Lupus Erythematosus Post-Strep Glomerulonephritis

Type IV Hypersensitivity Reaction | Mechanism and Examples (3)

Chronic T cell activation causing granuloma formation Tuberculosis Type 1 Diabetes Rheumatoid Arthritis