Primary immunodeficiency 1

Question 1

Innate immune system

Answer 1

Cells - polymorphonuclear cells, monocytes, macrophages, dendritic cells and NK cells… Soluble component -

Question 2

Phagocytes express?

Answer 2

Pathogen recognition receptors …

Question 3

Polymorphonuclear cells release

Answer 3

Releas enzymes, histamines …

Question 4

Mononuclear cells

Answer 4

produced in bone marrow, differentiate to macrophages

Question 5

What happens when pathogen infects tissue?

Answer 5

Endothelial cell activation …

Question 6

Phagocyte deficiency types

Answer 6

Reticular dysgenesis, Kostmann Syndrome, cyclic neutropenia, defect of phagocyte migration, cytokine deficiency

Question 7

What is reticular dysgenesis

Answer 7

autosomal recessive severe SCID. Mutation in mitochondrial energy metabolism enzyme adenylate kinates 2 (AK2)

Question 8

What is Kostmann syndrome

Answer 8

Autosomal recessivce severe congenital neutropenia

Question 9

What is cyclic neutropenia?

Answer 9

…

Question 10

Defect of phagocyte migration

Answer 10

Leukocyte adhesion deficiency - deficiency of CD18 (beta-2 integrin suubunit)

Question 11

Luekocyte adhesion deficienyc feautures

Answer 11

… absence of pus formation …

Question 12

Investigation of chronic granulomatous disease

Answer 12

Nitroblue tetrzolium (NBT) test, dihydrorhodamine (DHR) flow cytometry test

Question 13

Cytokine deficiency - failure to produce what?

Answer 13

IFN gamma, IFN gamma receptor, IL12, IL12 receptor

Question 14

Recurrent infections in skin or mouth bacterial

Answer 14

staph aureus, …

Question 15

Investigations of phagocyte deficiencies

Answer 15

neutrophil count, leukocyteadhesion markers, NBT or DHR test

Question 16

Recurrent infections with high neutrophil count on FBC but no abscess formation

Answer 16

Leukocyte adhesion deficiency … neutrophils can get into bloodstream but not out

Question 17

Child with recurrent infections with hepatosplenomegaly and abnormal dihydrorhodamine test (does not fluoresce)

Answer 17

chronic granulomatous disease

Question 18

Draw complement activation pathway

Answer 18

…

Question 19

What pathways of complement activation

Answer 19

classical, MBL, alternate

Question 20

Complement deficiency - susceptibility to bacterial infections, especially encapsulated bacteria (NHS)

Answer 20

Neisseria meningitides, haemophilus influenzae, strep pneumoniae

Question 21

C3 nephritic factors lead to consumption of C3 - true or false?

Answer 21

True

Question 22

Functional complement tests

Answer 22

CH50 classical pathway and AP50 alternative pathway

Question 23

C1q deficiency investigation results

Answer 23

CH50 abnormal (low?)

Question 24

Properidin deficiency investigation results

Answer 24

AP50 abnormal (low)

Question 25

C9 deficiency investigation results

Answer 25

CH50 and AP50 low/abnormal

Question 26

SLE invstigation rsults

Answer 26

C4 LOW/abnormal, may have reduction/abnormalities in C3 AND or CH50

Question 27

Management of complement deficiencies...

Answer 27

vaccinations ...

Question 28

Q. no features..

Answer 28

...

Question 29

Q. 9 y/o girl ...

Answer 29

...