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ID Domain > Diseases > Flashcards

Diseases Flashcards

1
Q

C3 deficiency

A

Increase risk of severe recurrent pyogenic sinus and respiratory infections

increases susceptibility to type III hypersensitivities

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2
Q

C5-C9 deficiency

A

Increase susceptibility to Neisseria bacteremia

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3
Q

DAF (GPI anchored enzyme deficiency)

A

Causes complement mediated lysis of RBCs and paroxysmal nocturnal hemoglobinuria (purple color or dark urine)

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4
Q

C1 deficiency

A

Increased susceptibility to encapsulated organisms

SLE

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5
Q

C1 esterase inhibitor deficiency

A

AD
Causes hereditary angioedema-ACE inhibitors contraindicated

Episodes of painless, non pitting, well circumscribed edema
Manifests as abdominal pain, vomiting and diarrhea

C1 esterase blocks activation of complement and kalikrein which derives into bradykinin (decreasing their effects of increased vasodilation and vascular permeability)
Excess bradykinin + C3a and C5a lead to angioedema

if affecting tracheobronchial tree leads to death

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6
Q

Type I Hypersensitivity

A

Anaphylactic and atopic-free antigen cross links IgE on presensitized mast cells and basophils, triggers immediate release of vasoactive amines that act at postcapillary venules (histamine, proteases, heparin, leukotrienes and PGs)
Increased tryptase from mast cells

Reaction develops rapidly after Ag exposure due to preformed Ab

Delayed response due to production of arachidonic acid metabolites (leukotrienes)

Leads to systemic vasodilation, brnchioconstriction and inflammation
Wheal-single lesion of uriticaria described as erythematous plaque or papule with central pallor

Test: skin test for specific IgE

Treat with epineprhine

Examples: anaphylaxis-Bee sting, food/drug allergy,
allergic and atopic disorders-rhinitis, hay fever, eczema, hives, asthma

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7
Q

Type II Hypersensitivity

A

Cytotoxic-Ab mediated
IgM, IgG bind to fixed Ag on enemy cell leading to cellular destruction

3 mechanisms
Opsonization leading to phagocytosis or complement activatiotn
Complement mediated lysis (C5-C9)
Ab-dependent cell mediated cytotoxicity usually due to NK cells or marcophages

Decreased C3 in drawn serum

Tests:
Direct Coombs:detect Abs that HAVE adhered to patient’s RBCs
Indirect Coombs: detects Abs that CAN adhere to other RBCs

Examples: autoimmune hemolytic anemia, pernicious anemia, idophathic throbocytopenic purpura, erythorblastosis fetalis, Acute hemolyic transfusion reactons-ABO incompatibility
Rheumatic fever, Goodpasture, Bullous pemphigoid, Pemphigus vulgaris, myasthenia gravis

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8
Q

Type III Hypersensitivity

A

Immune complex: Ag-Ab (IgG) complexes activate complement which attracts neutrophils
neutrophils release lysosomal enzymes

Decreased C3 in drawn serum

Examples: Lupus, Polyarteritis nodosa, Poststreptococcal glomerulonephritis, serum sickness, arthrus reaction

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9
Q

Serum Sickness

A

An immune complex disease in which Abs to the foreign proteins are produced (takes 5 days)

Immune complexes form and are deposited in membranes where they fix complement leading to tissue damage

Fibrinoid necrosis and neutrophil infiltration

Most serum sickness is caused by drugs acting as haptens

fever, uriticaria, arthralgias, proteinuria, lymphadenopathy (5-10 days after Ag exposure)

Hypocomplimentemia

(Chimeric Abs, non human Igs-venom, penicillin, cefactor and trimethoprim-sulfamethoxale)

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10
Q

Arthurs Reaction

A

Local subacute mediated hypersensitivity reaction

Intradermal infection of Ag induces Ab which form Ag-Ab complexes in the skin

Characterized by: edema, necrosis and activation of complement

Test: immunofluorescent staining

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11
Q

Type IV hypersensitivity

A

Delayed (T cell mediated)
Sensitized T lymphocytes encounter Ag and then release lymphokines (leads to macrophage activation-NO Abs)

Occurs 1-2 days later-meidated by Th1 lymphocytes releasing IFN-y

Examples: transplant rejection, TB skin tests, contact dermatitis, MS, Guillain Barre, GVH,

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12
Q

Allergic Reaction to blood transfusion

A

Type I hypersensitivity

Against plasma proteins in transfused blood

Clinical: uriticaria, pruritus, wheezing, fever

Treatment: antihistamines

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13
Q

Anaphylactic Blood transfusion reaction

A

Severe allergic reaction

IgA deficient individuals must receive blood products that lack IgA

Clinical: dyspnea, bronchospasm, hypotension, respiratory arrest, shock

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14
Q

Febrile nonhemolytic transfusion reaction

A

Type II hypersensitivity reaction

Host Abs against donor HLA Ags and leukocytes

Clinical: fever, headache, chills, flushing

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15
Q

Acute hemolytic transfusion reaction

A

Type II hypersensitivity

Intravascular hemolysis (ABO group incompatibility) or extravascular hemolysis (host Ab reaction against foreign Ag on donor RBCs)

Clinical: fever, hypotension, tachypnea, tachycardia, flan pain, hemoglobinemia, jaundice
Chest and or back pain

DIC or rneal failure

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16
Q

X-linked agammaglobulinemia

A

Defect: defect in BTK-tyrosine kinase
No B cell maturation

X linked recessive-Boys

Presentation: recurrent bacterial and enteroviral infections after 6 months (decreased maternal IgG)

Giardia Lamblia gastroenteritis due to decreased Abs

Findings: decreased CD19 and CD20
Decreased pro-B, decreased Ig of all classes

Absent scanty lymph nodes and tonsils-no germinal centers or follicles
Increased risk of encapsulated bacteria

17
Q

Selective IgA deficiency

A

Majority ASYMPTOMATIC

Can see airway and GI infections, autoimmune diesease, Atopy-predisoposition to allergic reactions
Anaphylaxis to IgA containing products-blood transfusions!

Normal IgM and IgG

18
Q

Common variable immunodeficiency

A

Defect in B cell differentiation

Can be acquired in 20s and 30s

Increased risk of autoimmune disease, bronchiectasis, lymphoma, sinopulmonary infections (in adults and children)

Decreased plasma cells and immunoglobins

19
Q

thymic aplasia (DiGeorge Syndrome)

A

22q11 deletion-failure to develop 3rd and 4th pharyngeal pouches-absent thymus and parathyroids (detected by FISH)

Presentation: tetany (hypocalcemia), recurrent viral/fungal infections, conotruncal abnormalities (tetraology of Fallot/truncus arteriosus0

Findings: decreased T cells, decreased PTH, decreased Ca
Absent thymic shadow on Chest X ray
Decreased paracortex

20
Q

IL-12 receptor deficiency

A

AR
Decreased TH1 response

Presentation: disseminated mycobacterial and fungal infections
May present after administration of BCG vaccine

Findings: decreased IFN-y

21
Q

AD hyper IgE syndrome (Job Syndrome)

A

Deficiency of TH17 cells due to STAT3 mutation leading to impaired recruitment of neutrophils to sites of infection

Presentation: Staph AbscEES, retained baby TEETH, EczEma, coarse FacEEEs-widened bridging head

Findings: increased IgE
Decreased IFN-y

22
Q

Chronic mucocutaneous candidiasis

A

T cell dysfunction

Presentation: noninvasive Candida albicans infections of skin and mucous membranes

Findings: absent T cell proliferation in response to candida Ags
Absent cutaneous reaction to Candida Ags

23
Q

Severe Combined Immunodeficiency

A

Defective IL-2R gamma chain-(most common-X-linked)
Adenosine deaminase deficiency (AR)-toxic accumulation of deoxyadenosine affects dividing T lymphocytes

Presentation: failure to thrive, chornic diarrhea, thrush (candidiasis),
Recurrent bacterial, viral, fungal, and protozoal infections

Treatment: bone marrow transplant (no concern for rejection)

Findings: decreased T cell receptors excision circles (CD3)
Absence of thymic shadaw
No germinal centers-hypogammaglobinemia

Anergy to candidiasiss test-no macrophages, CD4, CD8 or NK cells)

24
Q

Ataxia Telangiectasia

A

Defects in ATM gene leadign to DNA double strand breaks and cell cycle arrest
Increased cancer risk

Presentation: cerebellar defects (atrophy), spider angiomas, IgA deficiency-repeated sinopulmonary infections

Findings: Increased AFP
Decreased IgA, IgG, and IgE
Lymphopenia

25
Q

Hyper IgM syndrome

A

Most commonly due to defective CD40L on TH cells leading to class switching defect

X linked receessive-Boys

Presentation: severe pyogenic infections early in life,
opportunistic infection with pneumocystis, Cryptosporidium, CMV
Recurrent sinus and airway infections-decreased IgA

Findings: increased IgM, decreased IgG, IgA, and IgE

Treatment: IV gamma globulin

26
Q

Wiskott-Aldrich syndrome

A

Mutation in WAS gene
T cells unable to reorganize actin cytoskeleton

X linked recessive-Boys

Presentation: Thrombocytopenic purpura (bleeding, petechiae, hematemesis), Eczema, recurrent infections
Increased risk of autoimmune disease and malignancy

Findings: decreased to normal IgG and IgM
Increased IgE and IgA (WEskott Aldrich)
Fewer and smaller platelets
Encapsulated and opportunistic organisms

27
Q

Leukocyte adhesion deficiency type 1

A

Defect in LFA-1 integrin (CD18) on phagocytes
Impaired migration and chemotaxis

AR

Presentation: recurrent bacteria skin and mucosal infections
Absent pus formation
Impaired wound healing 
Delayed separation of umbilical cord
Gingivitis and peridontitis

Findings: increased neutrophils but absence at infection sites

Inability to synthesize beta-2 integrins-Mac1 and LFA affecting tight adhesion, crawling and transmigration

28
Q

Chediak Higashi syndrome

A

Defect in lysosomal trafficking gene
Microtubule dysfunction in phagosome-lysosome fusion

AR

Presentation: recurrent pyogenic infections by staphylococci and streptococci
Partial albinism
Peripheral neuropathy
Progressive neurodegeneration
Inflitrative lymphohistocytosis
Nystagmus

Findings: giant granules in neutorphils and platelets
Pancytopenia
Mild coagulation defects
abnormal melanin storage in melanocytes-albinism

29
Q

Chronic granulomatous disease

A

Defect of NADPH oxidase leading to decreased reactive oxygen species
Absent respiratory burst in neutrophils
Decrease activation of granule proteases

Increased susceptibility to catalase + organisms which can destroy own H202 production by metabolism

Recurrent infections: pneumonia, skin and organ abscesses, suppurative adenitis, and osteomyelitis
Diffuse granuloma formation

Findings: abnormal dihydrohodamine (flow cytometry test)-no fluorescence=CGD
Nitroblue tetrazolium blue test-no blue (yellow is normal)

30
Q

Hyperacute Transplant rejection

A

Within minutes

Pre-existing recipient Abs react to donor Ag (type II hypersensitivity) and activate complement

Widespread thrombosis of graft vessels leading to ischemia and necrosis-becomes cyanotic and mottled
Fibrinoid necrosis and thrombotic occlusion

Graft must be removed

31
Q

Acute Transplant rejection

A

Weeks to months
Mediated by host T cell lymphocyte sensitization against graft MHC Ags

Generally asymptomatic but can develop fevers, chills, malaise and arthralgias

Increased creatinine, hypertension, decreased urine output
Neutrophilic inflitrate with necrotizing vasculitis

Cellular: CTLs activated against donor MHCs
Humoral: Abs develop after transplant

Vasculitis of graft vessels with dense interstitial lymphocytic inflitrate (cell mediated)

Prevent/reverse with calcineurin inhibitors or corticosteroids

32
Q

Chronic transplant rejection

A

Months to years
FIBROSIS-collagen in vessels

Recipient T cells perceive donor MHC as recipient MHC and react against donor Ags presented
Both cellular and humoral components

Scant inflammatory cells and interstitial fibrosis
Parenchyma atrophy
Vascular wall thickening and luminal narrowing

Organ specific:
Kidney: Worsening hypertension, increased creatinine, proteinuria
Vascular fibrosis, glomerulopathy
Heart: atherosclerosis
Lungs: bronchiolitis obliterans-fibrotic obstruction, fibropurlen exudate and granulation tissue, replaced by CT
Liver: vanishing bile ducts

Irreversible

33
Q

Graft Vs. Host disease

A

Bone marrow and liver transplants

Grafted immunocompetent T cells proliferate in the immunocompromised host and reject host cells with “foreign” proteins-severe organ dysfunction

CD4 and CD8 cells destroy tissue

Maculopapular rash, jaundice, diarrhea, hepatosplenomegaly

34
Q

Leprosy

A

Caused by mycobacterium leprae-Acid fast

Likes cool temperatures-infects skin and superficial nerves- invades Scwann cells
Testicular destruction and blindness, paresis and regional anesthesia

Resevoir: Armadillos

Lepramatous: presents diffusely over the skin with lion like facies
Communicable by low cell mediated immunity with humoral Th2 response
-lepromin test
Increased bacteria load within macrophages

Tuberculoid:
Limited to few hairless skin plaques
Characterized by high cell mediated immunity with a largely Th1 response
+ lepromin test-indurated nodule

Treatment: dapsone and rifampin for 6 months for tuberculoid
Dapsone, rifampin and clofazamine for 2-5 years for lepoamtions

ID Domain (2 decks)

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