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Pathology and MuscSkel > Autoimmune > Flashcards

Autoimmune Flashcards

1
Q

What causes APECED geneticaly?

A

Its a defect in hte AIRE gene, leading to a lack of expression of self antigens in thymic medullary epithelial cells

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2
Q

What is the clinical syndrome associate with APECED?

A

autoimmune and parathyroid disease
also see hypothyroidism, hypogonadism, vitiligo, pernicious anemia
also associatd with fungal infections due to targeting of IL 17

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3
Q

What is the genetic cause of autoimmune lymphoproliferative syndrome? (ALPS)

A

mutationi n Fas or Fas ligand

increased percentage of CD4/CD8 negative T cells

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4
Q

What is the clinical syndrome associated with ALPS?

A

high IgG, IgA, IgM; widespread lymphadenopathy, splenomegaly and autoimmune ctopenias

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5
Q

What is the disease associated with hypergammaglobulinemia, low insulin, low albumin, high IgE, skin test positive to all food, diffuse eczematous rash, cachexia, pallor, failure to thrive?

A

IPEX due to deletion of Foxp3 and loss of T reg cells

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6
Q

What are the strongest links to autoimmunity geneticaly?

A

MHC/ HLA genes

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7
Q

WHat are the 4 types of hypersensitivity reactions?

A

type 1: Immediate sensitivity (IgE mediated)
type 2: antibody mediated
Type 3: Immune complex
Type 4: delayed type hypersensitivity (T cells)

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8
Q

What disease is a type 2 hypersensitivity reaction associated with streptococcus infection?

A

Acute rheumatic fever

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9
Q

What are the 5 major manifestations of acute rheumatic fever?

A 
J<3NES Criteria
Joint (polyarthritis)
Heart (cardtitis)
nodules
erythema marginatum
sydenhams chorea

Diagnosis is 2 major or 1 major and 2 minor symptoms along with exclusion of other dxs

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10
Q

What is the tx of rheumatic fever?

A

penicillin prophylaxis until adulthood or lifelong dependent on severity

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11
Q

What are the treatments of antibody mediated diseases?

A

High does IVIG – controversial mechanism of action
Corticosteroids–prednisone short term
rituximab (anti-B cell therapy but not plasma cells)

Life threatening plasmapheresis

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12
Q

What are type 3 hypersensitvitiy reactions?

A

When antigens/antibodies comine in circulation; lead to activate complement with failure to clear and deposits in vasculature

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13
Q

What are the symproms of systemic lupus erythematosus?

A

malar rash
discoid rash
photosensitivity
oral/nasal ulcers

arthritis
serositis
cerebritis
nephritis

Labs:
ANA
Immune -dsDNA or Anti-SM
Autimmune cytopenias ITP AIHA

Need 4/11 for dx

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14
Q

Complement defects lead to early onset of what disease?

A

systemic lupus

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15
Q

What are type 4 hypersensitivity diseases?

A

delayed onset; cell mediated diseases by T cell either CD8 or CD4

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16
Q

What is the pathology associated with Rheumatoid Arthriitis?

A

pannus formation and aggregation of mononuclear cells

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17
Q

What are teh treatments for Rheumatoid Arthritis?

A 
NSAIDS
Antimetabolites that inhibit DNA synthesis --> methotrexate: folic acid analog
--> azathioprine: purine analogue
glucocorticoids (short term)
monoclonal Ab to immune molecules
anti-TNF
anti-IL1
Anti-IL6
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18
Q

What are the Sx of dermatomyositis?

A 
heliotropic rash ((sun sensitive), occurs on eyelids and bridge of nose, marked with edema soometimes)
gottrons papules; (plaques on joints scaly)
proximal muscle weakness
capillary changes
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19
Q

What is the pathology behind dermatomyositis?

A

perifascicular atrophy
perivascular inflammatory infiltrate with CD4+ cells and B cells and Mphage
Necrosis of msucle occurs in periphery or wedge shape

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20
Q

What causes the vascular damage in dermatomyositis?

A

MAC complexes on vasculature

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21
Q

What are secondary causes of immunodeficiencies?

A 
immunosuppressants
malnutrition
infections
malignancies
metabolic
loss of lymphocytes or antibodies
coolagen vascular disease
22
Q

What can you see in neutrophil defects?

A 
onset early in infancy
severe bacterial infections
abscesses
gingival disease
poor wound healing
lack of pus
common pathogesn -- catalase + organsims
ie
chronic granulomatous diease
congenital neutropenia
leukocyte adhesion deficiency
23
Q

Initial test that all shoudl get with neutrophil defect?

A 
CBC with differential (calculate ANC)
oxidative burst (DHR)
24
Q

complement defects cause what type of disease?

A

early age
early (C2, C4) defects
sinopulmonary infections, autoimmune disease

Late (c5-C9) defects
increase susceptibility to Neisserial infections

C3 defects, sever pyogenic infections

25
Complement defect work up includes what?
CH50 If 0 suspect complement deficiency if low but not 0 assume complement consumption
26
B-cell antibody defects?
antibody deficiencies most common PIDs Agammaglobulinemias usually present in first year or two of live; CVID at any age Recurrent sinopulmonary bacterial infections --mycoplasma and encapsulated organisms enteroviral meningitis chronic GI infections ie XLA, CVID
27
B-cell/antibody defects work up?
``` CBC with DIF Quantitative immunoglobulins vaccine titers consider -CH50 -sweat chloride -CT sinuses/chest ```
28
T cell or combined T cell/ Bcell defects?
``` SCID-first year of life recurrent severe infections viruses fungi bacteria opportunistic ``` combined: SCID T cell: 22q112DS di George
29
T cell/combined defect-work up
lymphocyte subset enumeration (flow cytometry) cannot diagnose T cell deficiency by an ALC (all lymphocyte count) alone Immunoglobulins T cell proliferation (mitogens)
30
What is the genetic cause of X-linked scid?
mutation in common gamma chain of IL2 receptor and a bunch of other IL chains leading to lack of proliferation of T cells
31
Diagnositic SCID?
screening test for CBC of lymphocytepenia | confirmation of SCID done by flow cytometry and cell enumeration
32
What is screening test for SCID now in newborns?
T cell receptor excision circles non replicating circular pieces of DNA in naive T cells generatied in process of making a t cell receptor number of TRECs in SCID from qt-PCR will be low
33
22q11.2 microdeletion causes what?
diGeorge syndrome
34
What gene underlies many of the abnormalities of diGeorge syndrome?
TBX1
35
What is the clinical spectrum of 22q11.2 (diGeorge)?
``` CATCH22 cardiac defects abnormal fascies thymic hypoplasia cleft palate hypocalcemia 22nd chromosome many cases undiagnosed until late childhood Dx DNA microarray (preferred), FISH ```
36
What is X-linked aggamaglobulinemia?
Most common cause of aggammaglobulinemia. 1:100,000 screen for antibodies Mutation in Btk (brutons tyrosine kinase) results in failure of differentiation of B cells
37
What is common variable immunodeficieency?
most common PIDD | onset at any age
38
What disesases are most common in CVID?
pulomary disease bronchiectasi and interstitial lung disease cause of death is pulomnary disease or B cell lymphoma GI problems also common
39
CVID -diagnosis how?
decrease in IgG and a low IgA or IgM
40
What is IgA deficiency?
most common Ab deficiency? (1:400) live births | vast majority subjects are normal with no phenotype
41
Why is IgA deficiency unique?
They can make heterophile antibodies, alsoc describe in EBV infection; can identify antigens that wasn't originally made for makes a lot of false positive results and false negatives because of heterophiles
42
Specific antibody deficiency?
Normal everything, but abnormal specific antibody response to immunization esp polysaccharide antigens rarely need replacement Ab
43
What do both XLA and CVID have in common with exposure to vaccines?
low antibody response to vaccines
44
Dx studies in pts with Ab deficiency what do you do differently?
don't use serological assays | look for antigens or use PCR exams
45
What is chronic granulomatous disease cause?
all forms functional absence of respiratory burst | X-linked is the most common cause
46
CGD clinical findings?
``` onset by age 2 pneumonia adenopathy hepatic abscess without obvious source sepsis osteomyelitis infection with catalse + bacteria ```
47
Diagnoising CGD test?
dihydrorhodamine (DHR preferred) activate neutrophils, when exposed to DHR and measure if oxidative burst occurs becuase that would cause DHR fluoresence when oxidative
48
What is the definitive treatment for CGD?
bone marrow transplant
49
What is leukocyte adhesion deficiency?
lack of adhesion molecules most common LAD1 is a lack of tight adhesion leads to lack of neutrophils because unable to leave bloodstream
50
What is the way to diagnose leukocyte adhesion deficiency?
flow cytometry
51
What is the typical infection of late complement deficiency?
increased susceptibility to neisseria
52
Early complement disease deficiency is usually associated with what?
autoimmune diseases including early onset Lupus

Pathology and MuscSkel (15 decks)

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