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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
Q

Complement defect work up includes what?

A

CH50
If 0 suspect complement deficiency
if low but not 0 assume complement consumption

26
Q

B-cell antibody defects?

A

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
Q

B-cell/antibody defects work up?

A 
CBC with DIF
Quantitative immunoglobulins
vaccine titers
consider
-CH50
-sweat chloride
-CT sinuses/chest
28
Q

T cell or combined T cell/ Bcell defects?

A 
SCID-first year of life
recurrent severe infections
viruses
fungi
bacteria
opportunistic

combined: SCID
T cell: 22q112DS di George

29
Q

T cell/combined defect-work up

A

lymphocyte subset enumeration (flow cytometry)
cannot diagnose T cell deficiency by an ALC (all lymphocyte count) alone
Immunoglobulins
T cell proliferation (mitogens)

30
Q

What is the genetic cause of X-linked scid?

A

mutation in common gamma chain of IL2 receptor and a bunch of other IL chains leading to lack of proliferation of T cells

31
Q

Diagnositic SCID?

A

screening test for CBC of lymphocytepenia

confirmation of SCID done by flow cytometry and cell enumeration

32
Q

What is screening test for SCID now in newborns?

A

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
Q

22q11.2 microdeletion causes what?

A

diGeorge syndrome

34
Q

What gene underlies many of the abnormalities of diGeorge syndrome?

A

TBX1

35
Q

What is the clinical spectrum of 22q11.2 (diGeorge)?

A 
CATCH22 
cardiac defects
abnormal fascies
thymic hypoplasia
cleft palate
hypocalcemia
22nd chromosome
many cases undiagnosed until late childhood
Dx DNA microarray (preferred), FISH
36
Q

What is X-linked aggamaglobulinemia?

A

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
Q

What is common variable immunodeficieency?

A

most common PIDD

onset at any age

38
Q

What disesases are most common in CVID?

A

pulomary disease bronchiectasi and interstitial lung disease
cause of death is pulomnary disease or B cell lymphoma
GI problems also common

39
Q

CVID -diagnosis how?

A

decrease in IgG and a low IgA or IgM

40
Q

What is IgA deficiency?

A

most common Ab deficiency? (1:400) live births

vast majority subjects are normal with no phenotype

41
Q

Why is IgA deficiency unique?

A

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
Q

Specific antibody deficiency?

A

Normal everything, but abnormal specific antibody response to immunization esp polysaccharide antigens
rarely need replacement Ab

43
Q

What do both XLA and CVID have in common with exposure to vaccines?

A

low antibody response to vaccines

44
Q

Dx studies in pts with Ab deficiency what do you do differently?

A

don’t use serological assays

look for antigens or use PCR exams

45
Q

What is chronic granulomatous disease cause?

A

all forms functional absence of respiratory burst

X-linked is the most common cause

46
Q

CGD clinical findings?

A 
onset by age 2
pneumonia
adenopathy
hepatic abscess without obvious source
sepsis
osteomyelitis
infection with catalse + bacteria
47
Q

Diagnoising CGD test?

A

dihydrorhodamine (DHR preferred)
activate neutrophils, when exposed to DHR and measure if oxidative burst occurs becuase that would cause DHR fluoresence when oxidative

48
Q

What is the definitive treatment for CGD?

A

bone marrow transplant

49
Q

What is leukocyte adhesion deficiency?

A

lack of adhesion molecules most common LAD1 is a lack of tight adhesion
leads to lack of neutrophils because unable to leave bloodstream

50
Q

What is the way to diagnose leukocyte adhesion deficiency?

A

flow cytometry

51
Q

What is the typical infection of late complement deficiency?

A

increased susceptibility to neisseria

52
Q

Early complement disease deficiency is usually associated with what?

A

autoimmune diseases including early onset Lupus

Pathology and MuscSkel (15 decks)

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