Immunology 5 - Autoinflammatory and autoimmune disorders Flashcards Preview

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Flashcards in Immunology 5 - Autoinflammatory and autoimmune disorders Deck (58)
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1

What is the difference between auto-immune and auto-inflammatory diseases?

Auto-inflammatory involves innate immune system
Auto-immune involves adaptive immune system

2

Which type of cell can produce IL1 and NFkappaB?

Neutrophil

3

What is the role of cryopyrin in inflammation?

Induces IL1/NFkB secretion by neutrophils

4

What is the role of pyrin-marenostin in inflammation?

Inhibits IL1/NFkB secretion by neutrophils

5

What is the inheritance pattern of Familial Mediterannean Fever?

Autosomal recessive

6

What is the mutation that causes Familial Mediterannean Fever?

MEFV mutation - this is the gene that codes Pyrin-marenostrin (inhibitory of inflammation)
Cryopyrin therefore not opposed

7

What are the symptoms of Familial Mediterannean Fever?

Periodic fevers of about 2-3 days duration
Pleurisy
Arthritis
Rash

8

What is the long-term risk of Familial Mediterannean Fever?

AA amyloidosis

9

What is the treatment for Familial Mediterannean Fever?

Colchicine
This binds tubulin on neutrophils

10

What is TRAPS?

TNF-Receptor Associated Periodic Syndrome

11

What is the defect that causes APECED?

AIRE
--> Defect in T cell tolerance
--> autoreactive T cells

12

What does APECED stand for?

Autoimmune PolyEndocrinopathy Cabndidiasis Ectodermal Dystrophy

13

What is the role of AIRE?

Upregulates expression of self antigen by the thymus to promote T cell apoptosis

14

What are the symptoms of APECED?

Auto-immune diseases - mostly hypoparathyroidism and Addisson's

15

What is the pathophysiology of candida susceptibility in APECED?

Auto-antibodies vs IL17 and IL22 are produced, which are interleukins that are important in candida immunity

16

What does IPEX stand for?

Immune polyendocrinopathy enteropathy X-linked syndrome

17

What is the mutation that causes IPEX?

FOXP3

18

What is the usual role of FOXP3?

Required for T reg cell development and function

19

What is the pathophysiology of IPEX?

FOXP3 mutation --> failure to negatively regulate T cell responses --> lots of autoreactive *B* cells

20

What are the symptoms of IPEX?

Diarrhoea, Diabetes, Dermatitis

21

What does ALPS stand for?

Autoimmune Lympho Proliferative Syndrome

22

What mutation causes ALPS?

Fas pathway mutation

23

What are the symptoms of ALPS?

Defect in lymphocyte apoptosis --> splenomegaly and lymphadenopathy
Autoimmune cytopaenias
Lymphoma

24

Recall 2 mutations associated with Crohn's disease

IBD1
NOD2

25

What is the HLA association of ankylosing spondylitis?

HLA-B27

26

Where in the body is most affected by ankylosing spondylitis?

Areas where there are high tensile forces

27

Recall 2 genetic associations of Grave's disease

HLA-DR3
CTLA4

28

Recall 3 genetic associations of SLE

HLA-DR3
CTLA4
PTPN22

29

What is the HLA association of Rheumatoid Arthritis?

HLA-DR4

30

What is the HLA association of Goodpasture's disease?

HLA-DR15

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