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immunology: diseases

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antinuclear antibodies (ANA)


anti dsDNA, anti-Smith

more specific for SLE


drug induced lupus (HHIP: hydralazine, INH, procainamide, phenytoin)

anti-IgG (RF)

rhuematoid arthritis


Scleroderma (CREST)

anti-Scl-70 (anti DNA topoisomerase I)

Scleroderma (diffuse)


primary biliary cirrhosis

antigliadin, antiendomysial

celiac disease

anti-basement membrane



Pemphigus vulgaris

antimicrosomal, antithyroglobulin



polymyositis, dermatomyositis

Anti-SS-A (anti- Ro)

Sjogren\\\'s Syndrome

Anti-SS-B (anti-La)

Sjogren\\\'s Syndrome

Anti-U1 RNP (ribonucleoprotein)

mixed connective tissue disease

anti-smooth muscle

autoimmune hepatitis

anti-glutamate decarboxylase





vasculitides: microscopic polyangitis, Churg-Strauss syndrome


pauci-immune crescentic glomerulonephritis

anti-TSH receptor

Graves disease

anti-ACh receptor

myasthenia gravis

Bruton\\\'s Agammaglobulinemia

X-linked; B cell def --> defective tyrosine kinase gene --> low levels of ALL Ig\\\'s; recurrent bacterial infections after 6m

Thymic Aplasia (DiGeorge\\\'s)

3rd+4th pouches failed to dev=no thymus=no T cells; no PTH --> low Ca --> tetany; congenital heart defect/great vessels; recurrent viral/fungal/protozoal infections; 90% have 22q11 del (FISH)


defect in early stem cell diff; adenosine deaminase deficiency (purine salvage pway); last defense=NK cells; presentation: severe recurrent infxns (Candida, fatal RSV, VZV, HSV, measles, flu, parainfluenza, PCP pneumo!) + chronic diarrhea + failure to thrive (no thymic shadow on newborn CXR)

Chronic Mucocutaneous Candidiasis

T cell dysfxn (v Candidiasis); Rx=ketoconazole


WAITER: Wiskott-Aldrich, high IgA, Immunodef, Thrombocytopenia+purpura, Eczema (truncal), Recurrent pyogenic infections: no/low IgM; X linked


DNA repair defect disorder; IgA deficiency; cerebellar ataxia, poor smooth pursuit of moving target w/eyes; telangectasias of face >5yo; increased CA risk (lymphoma, acute leukemia); radiation sensitivity; +/- high aFP in kids >8 yo; avg age of death=25

X-linked immunodeficiencies (WBC)

Wiskott-Aldrich, Bruton\\\'s, CGD, Hyper-IgM syndrome (high IgM, low IgG), 3 types: X-linked-no CD ligand; AR-no CD40; NEMO deficiency

IgA deficiency

most common; most pts appear healthy; sinus and lung infections; 1/6000 European descent; asscd with atrophy, asthma; possible anaphylaxis due to blood transfusion and blood products

IL12 receptor deficiency

mycobacterial infections (IL12 activates NK, Th1 cells)

Phagocyte Deficiencies

chronic granolumatous dz, Chediak-Higashi disease, Job\\\'s Syndrome, Leukocyte Adhesion Deficiency


lack of NADPH oxidase activity --> impotent phagocytes --> susceptible to catalse + orgs (S. aureus, E. coli, Klebsiella, Aspergillus, Candida); Dx= (-) nitroblue tetrazolium (NBT) dye; rx=prophylactic TMP/SMX, IFNg helpful

Chediak-Higashi Disease

defective LYST gene (lysosomal transport); defective phagocyte-lysosome interaction --> dx=giant cytoplasmic granules in PMNs; classic triad=partial albinism, recurrent resp tract and skin infections, neurological disorders (eg nystagmus)

Job\\\'s Syndrome aka hyper IgE syndrome

deficient IFNg --> PMNs fail to respond to chemotactic stimuli; high levels of IgE and eosinophils; classic triad=Eczema, recurrent cold staph infections, course facial features (broad nose, frontal bossing, deep set eyes); also common to retain front teeth=2 rows

Leukocyte Adhesion Deficiency (LAD)

abnormal integrins --> phagocytes unable to exit circulation; delayed separation of umbilicus

classic triad: Job\\\'s Syndrome

Eczema, recurrent cold staph infections, course facial features (two rows of teeth)

classic triad: Chediak-Higashi

albinism, recurrent resp tract + skin infections, neurological disorders

classic triad: SCID

severe recurrent infections (including PCP pneumonia), chronic diarrhea, failure to thrive

Type I hypersensitivity (IgE mediated, first and fast, no T cells involved!)

Anaphylaxis (bee sting, food/drug allergies; rx=epi!); Allergic and atopic disorders (rhinitis, hay fever, eczema, hives, asthma)

Type II hypersensitivity (IgG, IgM mediated)

hemolytic anemia (AIHA), pernicious anemia, ITP, erythroblastosis fetalis, acute hemolytic transfusion reactions, rheumatic fever, Goodpasture\\\'s, Bullous pemphigoid, pemphigus vulgaris, Graves\\\' dz, myasthenia gravis

Type III hypersensitivity (immune complex deposits)

SLE, rheumatoid arthritis, polyarteritis nodosa, poststrep glomerulonephritis, serum sickness (first think drugs!), arthus rxn (swelling and inflammation after vaccine), hypersensitivity pneumonitis (farmer\\\'s lung)

Type IV hypersensitivity (aka delayed, T cell mediated, does not involve antibodies!)

TIDM, multiple sclerosis, guillan-barre, hashimotos thyroiditis, graft-v-host dz, PPD test, contact dermatitis (poison ivy, nickel)

deficiency: C1 esterase inhibitor

hereditary angioedema (C1 esterase inhib: suppresses activation of classic pathway on self cells)

deficiency: C3

severe, recurrent pyogenic sinus and respiratory tract infections (strep pneumo, Hib); increased susceptibilty to type III hypersensitivty reactions, esp glomerulonephritis

deficiency: C5-C8 (MAC = C5b-9)

neisseria bacteremia (MAC normally makes a whole in PM)

deficiency: decay accelerating factor (DAF=CD55 + CD59)

complement mediated lysis of RBCs and paroxysmal nocturnal hemoglobinuria (PNH)

main fxn of: C1-C4

viral neutralization

main fxn of: C3b

Binds Bacteria = opsonization

main fxn of: C3a, C5a

A -- think anaphylaxis!

causes of granulomatous dz

TB, fungal infxns (histo), syphilis (gummas!), leprosy, cat scratch fever (bartonella), sarcoidosis, Crohn\\\'s, Berylliosis, Listeria, foreign bodies, Wagener\\\'s, chronic granulomatous disease

when to give preformed antibodies

post exposure: tetanus toxin, botulinum toxin, HBV, Rabies, RSV (To Be Healed Real Rapidly)