First Aid - HLA, AutoAbs, Genetic Ds chromosomes

Question 1

A3

Answer 1

Hemochromatosis

Question 2

B8

Answer 2

Addison disease, myasthenia gravis

Question 3

B27

Answer 3

Psoriatic arthristis, Ankylosing spondylitis, IBD-associated arthritis, Reactive arthritis (formerly Reiter syndrome)
–PAIR. Also known as seronegative arthropathies.

Question 4

DQ2/DQ8

Answer 4

Celiac disease

–I ate(8) too (2) much gluten at Dairry Queen

Question 5

DR2

Answer 5

Multiple sclerosis, hay fever, SLE, Goodpasture syndrome

Question 6

DR3

Answer 6

Diabetes mellitus type 1, SLE, Graves disease, Hashimoto thyroiditis, Addison disease

Question 7

DR4

Answer 7

Rheumatoid arthritis, diabetes mellitus type 1, Addison disease
– There are 4 walls in a “rheum” (room)

Question 8

DR5

Answer 8

Pernicious anemia -> vitamin B12 deficiency, Hashimoto thyroiditis.

Question 9

Anti-ACh receptor

Answer 9

Myasthenia gravis

Question 10

Anti-basement membrane

Answer 10

Goodpasture syndrome

Question 11

Anticardiolipin, lupus anticoagulant

Answer 11

SLE, antiphospholipid syndrome

Question 12

Anticentromere

Answer 12

Limited scleroderma (CREST syndrome)

Question 13

Anti-desmoglein (anti-desmosome)

Answer 13

Pemphigus vulgaris

Question 14

Anti-dsDNA, anti-Smith

Answer 14

SLE

Question 15

Anti-glutamic acid decarboxylase (GAD-65)

Answer 15

Type 1 diabetes mellitus

Question 16

Antihemidesmosome

Answer 16

Bullous pemphigoid

Question 17

Anti-histone

Answer 17

Drug induced lupus

Question 18

Anti-Jo-1, anti-SRP, anti-Mi-2

Answer 18

Polymyositis, dermatomyositis

Question 19

Antimicrosomal, antithyroglobulin

Answer 19

Hashimoto thyroiditis

Question 20

Antimitochondrial

Answer 20

Primary biliary cirrhosis

Question 21

Antinuclear (ANA)

Answer 21

SLE, nonspecific

Question 22

Antiparietal cell

Answer 22

Pernicious anemia

Question 23

Antiphospholipase A2 receptor

Answer 23

Primary membranous nephropathy

Question 24

Anti-Scl-70 (anti-DNA topoisomerase 1)

Answer 24

Scleroderma (diffuse)

Question 25

Anti-smooth muscle

Answer 25

Autoimmune hepatitis type 1

Question 26

Anti-SSA, anti-SSB (anti-Ro, anti-La

Answer 26

Sjogren syndrome

Question 27

Anti-TSH receptor

Answer 27

Graves disease

Question 28

Anti-U1 RNP (ribonucleoprotein)

Answer 28

Mixed connective tissue disease

Question 29

Voltage-gated calcium channel antibodies

Answer 29

Lambert-Eaton syndrome

Question 30

IgA anti-endomysial, IgA anti-tissue transglutaminase

Answer 30

Celiac disease

Question 31

MPO-ANCA/p-ANCA

Answer 31

Microscopic polyangiitis, eosinophilic granulomatosis with polyangiitis (Churg-Strauss syndrome)

Question 32

PR3-ANCA/c-ANCA

Answer 32

Granulomatosis with polyangiitis (Wegener)

Question 33

Rheumatoid factor (IgM antibody that targets IgG Fc region), anti-CCP (more specific)

Answer 33

Rheumatoid arthritis

Question 34

3

Answer 34

von Hippel-Lindau disease, renal cell carcinoma

Question 35

4

Answer 35

ADPKD (PKD2), achondroplasia, Huntington disease

Question 36

5

Answer 36

Cri-du-chat syndrome, familial adenomatous polyposis

Question 37

6

Answer 37

Hemochromatosis (HFE)

Question 38

7

Answer 38

Williams syndrome, cystic fibrosis

Question 39

9

Answer 39

Friedreich ataxia

Question 40

11

Answer 40

Wilms tumor, Beta-globin gene defects (eg, sickle cell disease, beta-thalassemia

Question 41

13

Answer 41

Patau syndrome, Wilson disease, retinoblastoma (RBI), BRCA2Prraderr-Willi syndrome

Question 42

15

Answer 42

Prader-Willi syndrome, Angelman syndrome, Marfan syndrome

Question 43

16

Answer 43

ADPKD (PKD1), alpha-globin gene defects (eg, alpha-thalassemia)

Question 44

17

Answer 44

Neurofibromatosis type 1, BRCA1

Question 45

18

Answer 45

Edwards syndrome

Question 46

21

Answer 46

Down syndrome

Question 47

22

Answer 47

Neurofibromatosis type 2, DiGeorge syndrome (22q11)

Question 48

X

Answer 48

Fragile X syndrome, X-linked agammaglobulinemia, Klinefelter syndrome (XXY)