Quick Recall: Genetic Mutations, Auto-antibodies, HLA-associations

Question 1

ANA, Anti-dsDNA, anti-Smith

Answer 1

Lupus (SLE); may also have Anti-SSa/b or Anti-phopholipid

Question 2

Anti-histone

Answer 2

Drug induced lupus
HIPPES
- Hydralazine (blood pressure, smooth muscle relaxant)
- Isoniazid (anti-tubercular)
- Phenytoin (anti-seizure)
- Procainimide (anti-arrythmia)
- Eternacept (anti-TNFa false receptor)
- Sulfa drugs

Question 3

Lupus anticoagulant, anti-cardiolipin, anti-B2 glycoprotein

Answer 3

Anti-phopholipid syndrome; will give false-positive VRDL or prolong PTT

Question 4

Anti-centromere

Answer 4

Limited Scleroderma (CREST)

Question 5

Anti-ACh receptor

Answer 5

Myasthenia gravis

Question 6

Anti-desmosome (Desmoglein 1 & 3)

Answer 6

pemphigus vulgaris

Question 7

anti-hemidesmosome

Answer 7

bullous pemphigoid

Question 8

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

Answer 8

Polymyositis/dermatomyositis

Question 9

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

Answer 9

Diffuse Scleromerma

Question 10

Anti-SSA(ro) or B(La)

Answer 10

Sjogren’s syndrome

Question 11

Anti-U1 RNP (ribonucleoprotein)

Answer 11

Mixed connective tissue disease

Question 12

Rheumatoid factor, Anti-CCP (cyclic citrullinated protein) against type II collagen

Answer 12

Rheumatoid athritis

Question 13

MPO or p-ANCA

Answer 13

microscopic polyangiitis or churg-strauss syndrome

Question 14

PR3 or c-ANCA

Answer 14

wegner’s granulomatosus

Question 15

APC gene/B-catenin gene

Answer 15

Deep fibromatosis (partner’s syndrome)

Question 16

t (11,22) or (EWS-FLI1)

Answer 16

Ewing sarcoma

Question 17

HLA-DR4

Answer 17

Rheumatoid arthritis

Question 18

HLA-B27

Answer 18

Ankylosing spondilitis, psoriatic arthritis, reactive arthritis (reiter’s syndrome), enterohepatic arthritis

Question 19

TSC1/TSC2 gene mutation

Answer 19

Rhabdomyoma and tuberous sclerosis

Question 20

t(x,18) translocation

Answer 20

Synovial sarcoma

Question 21

IDH1/IDH2 (isocitrate dehydrogenase)

Answer 21

Any type of -chondroma

Question 22

Rb (retinoblastoma) gene

Answer 22

Osteoblastoma

Question 23

ANKH gene defect

Answer 23

Calcium Crystal Deposits disease (pseudo gout)

Question 24

COL1A1 (collagen a1 or a2 defect)

Answer 24

osteogensis imperfecta

Question 25

FGFR-3 mutation

Answer 25

achondroplasia

Question 26

carbonic anhydrase II deficiancy

Answer 26

osteopetrosis

Question 27

PTCH1 gene mutation

Answer 27

Basal cell carcinoma (gorilla’s syndrome)

Question 28

BRAF mutation

Answer 28

Malignant melanoma

Question 29

IgA anti-bodies against transglutaminase enzymes

Answer 29

Celiac’s disease, dermatitis herpeteformis