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Immunology and Serology > Autoimmunity (Organ-specific autoimmune disease) > Flashcards

Autoimmunity (Organ-specific autoimmune disease) Flashcards

1
Q

diseases in which immune response is directed against self-antigens that are mainly found in a single organ/gland

A

Organ-Specific Autoimmune Diseases

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2
Q

2 Autoimmune Thyroid Disease (AITDS)

A

Hashimoto’s thyroiditis (Chronic lymphocytic thyroiditis)
Graves disease

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3
Q

associated alleles/HLA antigens in Hashimoto’s thyroiditis

A

HLA antigens DR3, DR4, DR5, DQ7

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4
Q

associated allele/HLA antigen in Graves dse

A

HLA-DR3

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5
Q

formed antibodies from the mutations in the thyroglobulin gene that allow for interaction of protein with HLADR antigens

A

antithyroglobulin antibodies

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6
Q

history of Chronic lymphocytic thyroiditis

A

Japan, 1912
Dr. Hakaru Hashimoto

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7
Q

most common autoimmune disease; what is the proportion?; W:M?

A

Hashimoto’s Thyroiditis (Chronic lymphocytic thyroiditis)
8 in every 1,000
5-10:1

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8
Q

condition with a production of thyroid-specific autoantibodies and cytotoxic T cells

A

Hashimoto’s Thyroiditis

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9
Q

associated with hypothyroidism

A

Hashimoto’s Thyroiditis

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10
Q

S/S:
dry skin
decreased sweating
puffy face with edematous eyelids
pallor with a yellow tinge
weight gain
fatigue
dry and brittle hair

A

Hashimoto’s Thyroiditis

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11
Q

assoc with hyperthyroidism

A

Graves Disease

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12
Q

S/S:
nervousness
insomnia
depression
weight loss
heat intolerance
sweating
rapid heartbeat
palpitations
breathlessness
fatigue
cardiac
dysrhythmias
restlessness

A

Graves Disease

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13
Q

sign present in 35% of patients with Graves dse

A

Exophthalmos (hypertrophy of eye muscles and increased connective tissue in the orbit)

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14
Q

express TSH receptor-like proteins affected by thyroid-stimulating immunoglobulin

A

Orbital fibroblasts

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15
Q

Treatment for Autoimmune Thyroid Disease (AITDS)

A

daily oral thyroid hormone replacement therapy, with levothyroxine (T4)

radioactive iodine therapy, or surgery (thyroidectomy)

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16
Q

Lab diagnosis for Autoimmune Thyroid Disease (AITDS)

A

TSH levels (chemiluminescent immunoassays - < 0.1 mU/L)

TSH Receptor Ab (TRAbs) – Graves dse

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17
Q

selective destruction of beta cells of the pancreas; characterized by hyperglycemia

A

Type 1 Diabetes

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18
Q

associated HLA gene in T1 diabetes

A

HLA-DR3 or DR4 gene

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19
Q

T/F
hyperglycemia does not become evident until 80% or more of the beta cells are destroyed

A

T

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20
Q

it is central to disease pathogenesis of T1 diabetes

A

autoimmunity to insulin

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21
Q

Treatment for T1 diabetes

A

Daily injectable insulin
Beta Islet cell transplantation

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22
Q

How is T1 diabetes diagnosed?

A

if 1 of 4 criteria is met:
1. fasting glucose >126 mg/dL on <1 occasion (normal: < 100 mg/dL)
2. random plasma glucose level of >200 mg/dL with classic symptoms of diabetes
3. oral glucose tolerance test of >200 mg/dL in a 2-hour sample with a 75 g glucose load
4. hemoglobin A1c value (HbA1c) >6.5%

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23
Q

glycated form of hgb made when RBC protein combines with glucose in the blood.

A

HbA1c

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24
Q

HbA1c reflects the average plasma glucose concentration over the previous _____

A

2-3 months

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25
Q

Used for Confirmation of T1 diabetes diagnosis

A

antibodies to:

glutamic acid decarboxylase (GAD)
insulinoma-antigen 2 antibodies (IA-2A)

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26
Q

most sensitive tests and best positive predictive value for T1D in high-risk populations

A

Combined screening for IA-2A, ICA, GAD Ab

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27
Q

autoimmune disease affecting small intestine and other organs

A

Celiac Disease

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28
Q

Celiac Disease is associated with this known environmental trigger

A

dietary gluten

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29
Q

alleles in celiac disease

A

HLA-DQ2 (90% to 95%)
HLA-DQ8

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30
Q

W:M in celiac dse

A

2-3:1

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31
Q

what makes celiac dse difficult of diagnose?

A

extraintestinal manifestations in older children, teenagers, adults

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32
Q

Treatment for Celiac dse

A

gluten-free diet

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33
Q

Laboratory Diagnosis for Celiac dse

A

IgA Ab detection to tTG
biopsy of the small intestine
HLA typing

34
Q

serological method of choice for initial testing (ELISA based) of Celiac dse

A

IgA Ab detection to tissue transglutaminase (tTG)

35
Q

3 Autoimmune Liver Diseases

A

autoimmune hepatitis (AIH) / chronic active hepatitis
primary biliary cirrhosis (PBC)
primary sclerosing cholangitis (PSC)

36
Q

immune mediated liver disease that can lead to endstage liver failure if left untreated

A

Autoimmune Hepatitis (AIH)

37
Q

2 types of AIH differentiated on the basis of its autoantibody specificity

A

AIH-1
AIH-2

38
Q

2/3 of all AIH cases; W:M ratio = 4:1

A

AIH-1

39
Q

W:M ratio = 10:1; seen mostly in children

A

AIH-2

40
Q

alleles associated with a higher risk of developing AIH

A

HLA-DRB1 and HLA-DQB1

41
Q

necessary to confirm the diagnosis of AIH and to assess the extent of liver damage

A

Liver biopsy

42
Q

Treatment of AIH

A

standard immunosuppressive treatment of prednisolone (+/–azathioprine)

liver transplant

43
Q

most common autoimmune liver disease

A

Primary Biliary Cirrhosis (PBC)

44
Q

W:M of Primary Biliary Cirrhosis (PBC)

A

10:1

45
Q

haplotypes of Primary Biliary Cirrhosis (PBC)

A

HLA-DQA1
HLA-DQB1
HLADPB1
HLA-DRB1

46
Q

involves progressive destruction of intrahepatic bile ducts

A

Primary Biliary Cirrhosis (PBC)

47
Q

progressive destruction of intrahepatic bile ducts in Primary Biliary Cirrhosis (PBC) leads to

A

chronic cholestasis (flow of bile is slowed or blocked)

48
Q

manifestation of later stages of PBC

A

jaundice
ascites
greasy stools

49
Q

Treatment of PBC

A

ursodeoxycholic acid (UDCA)
liver transplant

50
Q

Diagnosis of PBC

A

Anti-mitochondrial antibodies (AMAs) - IIF and ELISA

Elevated alkaline phosphatase - 1.5X the upper limit of normal for 6 months or more

liver biopsy showing nonsuppurative destructive cholangitis and
interlobular bile duct injury

51
Q

autoimmune disorder involving CNS inflammation and destruction

A

Multiple Sclerosis

52
Q

Multiple Sclerosis most closely associated with inheritance of a particular HLA molecule coding for beta chain of the DR subregion, namely

A

DRB1*1501

53
Q

environmental factors associated with MS

A

reduced sunlight exposure
vit D deficiency
cigarette smoking

54
Q

formation of lesions in MS in the white matter of brain and spinal cord, resulting in the progressive destruction of the myelin sheath of axons

A

plaques

55
Q

specialized phagocytes of CNS

A

microglial cells

56
Q

sensory abnormalities of MS

A

tingling or “pins and needles”
flashes of light seen on eye movement

57
Q

W:M of MS

A

2:1

58
Q

Treatment of MS

A

corticosteroids (reduce inflammation)
IFN-β1a and IFN-β1b (downregulate MHC molecules on APC)
natalizumab (humanized monoclonal Ab)

59
Q

Laboratory Diagnosis of Multiple Sclerosis

A

protein electrophoresis and immunoblotting (oligoclonal)

IgG index = CSF IgG/albumin ÷ serum IgG/albumin (elevated)

60
Q

autoimmune dse that affects neuromuscular junction; weakness and fatigability of skeletal muscles

A

Myasthenia Gravis (MG)

61
Q

antibody-mediated damage to acetylcholine receptors in skeletal muscle

A

Myasthenia Gravis (MG)

62
Q

S/S
ptosis (drooping of the eyelids)
diplopia (double vision)
inability to retract corners of mouth: snarling appearance

muscle weakness - most noticeable in the upper limbs

A

Myasthenia Gravis (MG)

63
Q

antibody to acetylcholine (ACH) receptors (ACHR) in 80-85% of patients

A

MG

64
Q

HLA haplotype that has a strong association with early onset MG (EOMG)

A

A1
B8
DR3

65
Q

HLA haplotype which more likely to appear in late onset (LOMG)

A

B7
DR2

66
Q

HLA that may increase susceptibility to muscle-specific kinase (MuSK) antibody production in MG

A

HLA-DR14-DQ5

67
Q

Treatment of MG

A

Anticholinesterase agents (prevent destruction of neurotransmitter – acetylcholine)

Thymectomy on patients with thymoma

Plasmapheresis or IV immunoglobulin

Monoclonal antibodies or fusion proteins

68
Q

Lab Dx of MG

A

radioimmunoprecipitation (RIPA) assay - detected with a radio-labeled snake venom called α-bungaro-toxin)

immunofluorescence cell-based assays (patient serum is incubated with HEK293 cells expressing all 4 ACHR subunits)

ELISA, luciferase immunoprecipitation, fluorescence immunoprecipitation assays (FIPA)

69
Q

presence of autoantibody to an antigen in the basement membranes in the glomeruli of kidneys and alveoli of lungs

A

Good Pasture’s Syndrome

70
Q

Good Pasture’s Syndrome affects these 2 age grp

A

men in 30s
men & women in 60s and 70s

71
Q

rare disorder found mainly in Caucasians of European origin

A

Good Pasture’s Syndrome

72
Q

S/S: fatigue and malaise followed by clinical signs of kidney involvement such as edema and hypertension, which can rapidly progress to acute renal failure if left untreated; 60 – 70% of patients have pulmonary involvement and exhibit symptoms such as cough, shortness of breath, hemoptysis (coughing up blood)

A

Good Pasture’s Syndrome

73
Q

Treatment of GPS

A

high dose corticosteroids –> immunosuppressive drugs (cyclophosphamide)

plasmapheresis

lifetime hemodialysis or kidney transplantation

74
Q

HLA antigen carried by GPS patients

A

HLA-DRB1-15

75
Q

Etiology involves exposure to cigarette smoke & organic solvents; autoantibodies are specifically directed against noncollagenous domain of alpha-3 chain of type IV collagen; this autoantibody reacts with collagen in glomerular or alveolar basement membranes and causes damage by type II hypersensitivity

A

GPS

76
Q

Lab Dx of GPS

A

▪ gross or microscopic hematuria
▪ proteinuria
▪ decreased 24-hour creatinine clearance
▪ elevated blood urea and serum creatinine levels
▪ abnormally shaped RBCs and casts in urine sediment

77
Q

Circulating antibodies to GBM (Goodpasture Basement Membrane) can be identified through

A

IIF
ELISA
Western Blot

78
Q

T/F
ANCAs may be detectable months to years before antiGBM and symptoms are evident

A

T

79
Q

pattern formed of patient with GPS condition in direct immunofluorescence of kidney and lung specimen

A

smooth, linear, ribbonlike

80
Q

glomerulonephritis pattern on immunofluorescence? reason?

A

granular

nonspecific deposition of immune complexes in the glomeruli

Immunology and Serology (2 decks)

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