Autoimmune Disorders Flashcards
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
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
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
Discoid Lupus Erythematosus Manifestations
Clinical and Serologic
Clinical: Discoid rash
Serologic: anti-nuclear Abs
Drug Induced SLE Manifestations
Etiology, Serology, Genetics
Etiology: hydralazine, procainamide
Serology: anti-histone Ab
Genetics: HLA-DR4 (hydralazine), HLA-DR6 (procainamide)
Sjogren Syndrome
Presentation (3), Histology (2), Complications (2), Diagnosis
Dry eyes, Xerostomia, Dysphagia
B/T cell invasion and fibrosis
Mikulicz syndrome, Lymphoma
Lip biopsy
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
CREST Syndrome Presentation (5)
Calcinosis Raynaud's Esophageal Dysfunction Sclerodactyly Telangiectasias
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
Mixed Connective Tissue Disease Clinical Features (4), Serologic
Mixed SLE, Systemic Sclerosis and Polymositis features with Raynaud’s
High anti-RNP titer
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
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
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
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
Chediak Higashi Syndrome
Pathology and Presentation (3)
Phagolysosomal fusion failure
Increased bacterial infections, giant neutrophil granules, patchy hypopigmentation
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
