Term
What mutation is associated with Crohn's and Blau disease?
What chemokine receptor defect and other defect is associated with Crohn's?
What mutation is associated with hereditary fever syndrome? |
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Definition
NOD2 mutation
CCR9 defect and alpha-defensins (HD5, HD6)
NLRP3 mutation (tx- IL-1 antagonist) |
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Term
| What is the defect in psoriasis? |
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Definition
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Term
| What receptor do EBV and HHV8 use to get into a cell? |
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Definition
|
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Term
What receptor is exploited in HIV?
What receptor is associated with fungal infections (candida)?
What scavenger receptor is associated with aphthous ulcers? |
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Definition
D-C sign and CR1(CD35)
Dectins (CARD9 mutations)
N-Formyl met-leu-phe receptors |
|
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Term
| What is the treatment of JRA, familial cold induced urticaria and Muckle-Wells syndrome? |
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Definition
| IL-1 receptor antagonist (Anakinra) |
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Term
| What is the treatment for hypereosinophilic syndromes and Churg-Strauss? |
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Definition
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Term
| What defect is associated with paroxysmal nocturnal hematuria? |
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Definition
| DAF (CD55 - displaces C2a and Bb) and Vitronectin (CD59 - disrupts formation of polyC9) |
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Term
| What integrin ligand binds to Rhinovirus? |
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Definition
|
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Term
What proteins are associated with latex allergy in health care workers?
In patients with spina bifida? |
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Definition
Hev b 5 and 6
Hev b 1,3 and 7 |
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Term
What antibodies and immunoflorescence pattern is associated with pemphigus vulgaris?
Pemphigus foliaceous?
Bullous pemphigoid?
Pemphigoid gestationis?
Dermatitis herpetiformis?
Linear IgA dermatosis?
Paraneoplastic pemphigus?
Cicatricial pemphigoid?
Epidermal lysis bullosa acquisita?
Bullous lupus erythematosus?
IgA pemphigus? |
|
Definition
pemphigus vulgaris - desmoglein 1 and 3, IgG and IgM of epidermal surface (suprabasal layer)
Pemphigus foliaceous - desmoglein 1, IgG of epidermal surface (granular layer)
Bullous pemphigoid - BP230 or BP180, linear IgG at BM
Pemphigoid gestationis - BP230 or BP180, linear IgG at BM
Dermatitis herpetiformis - transglutaminase, granular IgA at BM
Linear IgA bullous dermatosis - LABD97, linear IgA at BM
Paraneoplastic pemphigus - plakin protein, desmoglein 1 and 3, IgA of epidermal surface
Cicatricial pemphigoid - integrins, BP180 and laminins, linear IgG at BM
Epidermolysis bullosa acquisita - collagen VII, linear IgG to BM
Bullous lupus erythematosus - collagen VII, linear IgG to BM
IgA pemphigus - Desmoglein 1 and 3, IgA to epidermal surface |
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Term
| What two genes are known to be involved in hypereosinophilia syndrome? |
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Definition
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Term
| What defect is associated with hereditary hemophagocytic lymphohistiocytosis? |
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Definition
|
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Term
| What does salmonella use for invasion in the GI tract? |
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Definition
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Term
| Name complement deficiencies associated with these disorders, SLE, membranoproliferative glomerulonephritis (MPGN), HUS, age-related macular degeneration (ARMD), HAE and paroxysmal nocturnal hemoglobinuria (PNH). |
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Definition
SLE (C1q, C1r, C1s, C2, C4, MBL)
MPGN (C1q, C1r, C1s, C2, C3, C4, Factor H, Factor I, CD46)
HUS (Factor H)
ARMD (Factor H)
HAE (C1 inhibitor)
PNH (CD59, CD55) |
|
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Term
What chemokine is associated with heparin-induced thrombocytopenia?
Atherosclerosis?
Cancer metastasis?
Asthma and allergies? |
|
Definition
CXCL4
CX3CR1 and CCL5
CXCL12 and CXCR4
CCL2,5,7,11 and CXCL8 |
|
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Term
| Histone deacetylation is reduced in what disease? |
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Definition
|
|
Term
SNPs below are associated with what disease(s)
Filaggrin?
ADAM33? |
|
Definition
Eczema, asthma
Asthma, bronchial hyperresponsiveness |
|
|
Term
| What is defective in glanzmann's thrombasthenia? |
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Definition
|
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Term
What complement receptor is associated with measles virus?
Echovirus and coxsackie virus?
Mycobacterium, TB and west Nile virus? |
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Definition
|
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Term
| What auto antibody is found in some patients with SLE? |
|
Definition
| C3 nephrotic factor (stabilizes C3bBb which upregulates consumption of C3, associated with type II MPGN and partial lipodystrophy) |
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Term
What autoantibody is found in hypocomplementemic urticarial vasculitis?
What is the treatment? |
|
Definition
Anti-C1q (leads to activation of classic complement pathway)
Hydroxychloroquine |
|
|
Term
What is the result of this testing
CH50 absent and AH50 ok?
AH50 absent and CH50 ok?
AH50 and CH50 absent?
C3, AH50 and CH50 absent? |
|
Definition
Missing C1q, C1r, C1s and C2 or C4
Missing Factor B or D or properdin
Missing C3, C5, C6, C7 and C8 or C9
Missing Factor H or I |
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Term
| What HLA is increased in idiopathic anaphylaxis? |
|
Definition
|
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Term
| Patients with atopic dermatitis have a decrease in what component of the innate immune system? |
|
Definition
| Antimicrobial peptides (AMP) -increases susceptibility to staph aureus |
|
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Term
What are the characteristics of Hemophagocytic lymphohistiocytosis (HLH)?
What is the name of HLH associated with X-linked lymphoproliferative syndrome and what virus is associated? |
|
Definition
Uncontrolled activation of macrophages, high fever, hsm, high ferritin and trigylcerides, low fibrinogen and low circulating NK cells
Duncan's syndrome, EBV |
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Term
| Antibody to which receptor can be found in chronic idiopathic urticaria? |
|
Definition
| Alpha chain of FcepsilonR1 (binding site for IgE) |
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Term
Which tryptase is elevated in anaphylaxis?
In mastocytosis?
Pro-beta:beta tryptase ratio is elevated in which disease? |
|
Definition
Beta-tryptase
Alpha and beta-tryptase
Mastocytosis (>20), other cause if <10 |
|
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Term
| What antibody is found in type 1 autoimmune hepatitis? |
|
Definition
| Anti-SMA (IgG to smooth muscle) |
|
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Term
Type III hypersensitivity is caused by immune complex deposition and is most pathogenic with antigen or antibody excess?
What is characteristic of Arthus reaction?
Serum sickness? |
|
Definition
Antigen excess
Local edema, neutrophil migration, hemorrhage, necrosis (peaks 4-10 hours after injection)
Fever, rash, joint pain, lad (in 1-3 weeks) |
|
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Term
What antigen is involved in these immune complex-mediated diseases?
SLE?
Poststreptococcal glomerulonephritis?
Polyarteritis nodosa?
Cryoglobulinemia? |
|
Definition
DNA, nucleoproteins
Streptococcal cell wall antigen
Hepatitis B surface antigen
Hepatitis C surface antigen, rheumatoid factor |
|
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Term
What antibody is associated with SLE?
Discoid lupus?
Subacute cutaneous lupus?
Neonatal lupus?
Drug-induced lupus?
Cutaneous scleroderma?
CREST (limited scleroderma)?
Progressive systemic sclerosis?
Dermatomyositis?
Sjogrens?
Mixed connective tissue disorder? |
|
Definition
SLE - dsDNA, ssDNA, Histone, nRNA, cardiolipin, smith, U1-snRNP, HMG-17
Discoid lupus - no autoantibodies, deposits at BM
Subacute cutaneous lupus - SS-A/Ro, SS-B/La
Neonatal lupus - SS-A/Ro, SS-B/La
Drug-induced lupus - histones
Cutaneous scleroderma - Scl-70, SS-A/Ro, SS-B/La
CREST (limited scleroderma) - centromere, Scl-70, U1-snRNP, HMG-17
Progressive systemic sclerosis - Scl-70, U1- and U3-snRNP, fibrillarin, RNA pol I,II and III
Dermatomyositis - Jo-1, PM-Scl, Mi-2, U1-snRNP and SS-A/Ro
Sjogrens - SS-A/Ro, SS-B/La, histones, U1-snRNP
Mixed connective tissue disorder - U1-snRNP and PM-scl |
|
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Term
| What is implicated in the pathogens is of EE? |
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Definition
|
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Term
What is the most common infecting organism in primary ciliary dyskinesia?
What is a common lung finding in PCD? |
|
Definition
H. Influenza
Bronchiectasis in 85%, situs inversus in 50% |
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