Autoimmunity

Question 1

what is central tolerance?

Answer 1

deletion of self-reactive lymphocytes in primary lymphoid tissue

Question 2

what is peripheral tolerance?

Answer 2

inactivation of self-reactive lymphocytes in peripheral tissues, that escaped central tolerance

Question 3

what cell mediates peripheral tolerance?

Answer 3

regulatory T cells (TREG cells)

Question 4

what is self tolerance?

Answer 4

when lymphocytes do not respond to specific self-antigens

Question 5

what four types of T cells can a Th0 cell differentiate into?

Answer 5

TH1
TFH
TH2
TREG

Question 6

what do TREG cells do?

Answer 6

inactivate lymphocytes

Question 7

how do TREG cells suppress autoreactive T cells?

Answer 7

produce anti-inflammatory cytokines

Question 8

what results in autoimmunity?

Answer 8

the failure of immunological tolerance

Question 9

what is a monogenic autoimmune disorder?

Answer 9

one where a single gene defect causes the disease

Question 10

name a monogenic autoimmune disorder

Answer 10

IPEX syndrome

Question 11

what causes most autoimmune disorders?

Answer 11

defects in many different types of genes

Question 12

when does IPEX syndrome present?

Answer 12

early childhood

Question 13

name three symptoms of IPEX syndrome

Answer 13

severe infections
eczema
diarrhoea

Question 14

what other disease do IPEX patients get at a young age?

Answer 14

diabetes mellitus

Question 15

what is the cure for IPEX syndrome?

Answer 15

haematopoietic stem cell transplantation (HSCT)

Question 16

what supportive care is given for IPEX syndrome?

Answer 16

immunosuppressive drugs

total parenteral nutrition

Question 17

what type of inheritance is shown by IPEX syndrome?

Answer 17

X-linked

Question 18

what gene is mutated in IPEX syndrome and what does this normally do?

Answer 18

FOXP3

essential for normal development of TREG cells

Question 19

who is affected by IPEX syndrome?

Answer 19

males only