First Aid - HLA, AutoAbs, Genetic Ds chromosomes Flashcards Preview

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Flashcards in First Aid - HLA, AutoAbs, Genetic Ds chromosomes Deck (48):
1

A3

Hemochromatosis

2

B8

Addison disease, myasthenia gravis

3

B27

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

4

DQ2/DQ8

Celiac disease
--I ate(8) too (2) much gluten at Dairry Queen

5

DR2

Multiple sclerosis, hay fever, SLE, Goodpasture syndrome

6

DR3

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

7

DR4

Rheumatoid arthritis, diabetes mellitus type 1, Addison disease
-- There are 4 walls in a "rheum" (room)

8

DR5

Pernicious anemia -> vitamin B12 deficiency, Hashimoto thyroiditis.

9

Anti-ACh receptor

Myasthenia gravis

10

Anti-basement membrane

Goodpasture syndrome

11

Anticardiolipin, lupus anticoagulant

SLE, antiphospholipid syndrome

12

Anticentromere

Limited scleroderma (CREST syndrome)

13

Anti-desmoglein (anti-desmosome)

Pemphigus vulgaris

14

Anti-dsDNA, anti-Smith

SLE

15

Anti-glutamic acid decarboxylase (GAD-65)

Type 1 diabetes mellitus

16

Antihemidesmosome

Bullous pemphigoid

17

Anti-histone

Drug induced lupus

18

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

Polymyositis, dermatomyositis

19

Antimicrosomal, antithyroglobulin

Hashimoto thyroiditis

20

Antimitochondrial

Primary biliary cirrhosis

21

Antinuclear (ANA)

SLE, nonspecific

22

Antiparietal cell

Pernicious anemia

23

Antiphospholipase A2 receptor

Primary membranous nephropathy

24

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

Scleroderma (diffuse)

25

Anti-smooth muscle

Autoimmune hepatitis type 1

26

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

Sjogren syndrome

27

Anti-TSH receptor

Graves disease

28

Anti-U1 RNP (ribonucleoprotein)

Mixed connective tissue disease

29

Voltage-gated calcium channel antibodies

Lambert-Eaton syndrome

30

IgA anti-endomysial, IgA anti-tissue transglutaminase

Celiac disease

31

MPO-ANCA/p-ANCA

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

32

PR3-ANCA/c-ANCA

Granulomatosis with polyangiitis (Wegener)

33

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

Rheumatoid arthritis

34

3

von Hippel-Lindau disease, renal cell carcinoma

35

4

ADPKD (PKD2), achondroplasia, Huntington disease

36

5

Cri-du-chat syndrome, familial adenomatous polyposis

37

6

Hemochromatosis (HFE)

38

7

Williams syndrome, cystic fibrosis

39

9

Friedreich ataxia

40

11

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

41

13

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

42

15

Prader-Willi syndrome, Angelman syndrome, Marfan syndrome

43

16

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

44

17

Neurofibromatosis type 1, BRCA1

45

18

Edwards syndrome

46

21

Down syndrome

47

22

Neurofibromatosis type 2, DiGeorge syndrome (22q11)

48

X

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