Primary Immunodeficiency

Question 1

what are the hallmarks of immune deficiency

Answer 1

serious persistent unusual recurrent infections

Question 2

Failure of stem cells to differentiate along myeloid lineage

Answer 2

1y - reticular dysgenesis 2y - after stem cell transplantation

Question 3

Specific failure of neutrophil maturation

Answer 3

kostman syndrome cyclic neutropaenia

Question 4

what is the most severe form of inborn SCID

Answer 4

reticular dysgenesis

Question 5

presentation of kostmann syndrome

Answer 5

severe chronic neutropaenia fever, irritable, failure to thrive, oral ulceration

Question 6

kostmann treatment

Answer 6

prophylactic antibiotics and antifungals stem cell transplant or G-CSF

Question 7

leucocyte adhesion deficencies

Answer 7

disorders of phagocyte migration - dont exit blood stream

Question 8

leucocyte adhesion deficiencies signs

Answer 8

recurrent bacterial infection high neutrophil count in blood no pus at infection site

Question 9

what is leucocyte adhesion deficency caused by

Answer 9

genetics defect in CD18

Question 10

name some opsonins

Answer 10

complement C3b, IgG and CRP

Question 11

name some ways of direct and indirect phagocyte recognition of pathogen

Answer 11

DIRECT

• Toll like receptors
• Scavenger receptors
• Lectin receptors

INDIRECT

opsonins

Question 12

what is an epitope

Answer 12

the part of an antigen molecule to which an antibody attaches itself

Question 13

how do opsonins bind to surface

Answer 13

CR1 and Fc receptor

Question 14

chronic granulomatous disease

Answer 14

mutations in genes encoding NADPH oxidase enzymes, results in failure of oxidative killing

Question 15

chronic granulomatous disease signs

Answer 15

excessive inflammation and granuloma formation

Question 16

what can chronic granulomatous disease be demonstrated by

Answer 16

NBT test

Question 17

what do defects in cytokines and their receptors make people susceptible to

Answer 17

mycobacterial infections - IL12 - IFN gamma network

Question 18

what does IL-12 induce T cells to secrete

Answer 18

IFN gamma

Question 19

where are immature T cells taken

Answer 19

thymus - mature here

Question 20

what does SCID result from

Answer 20

failure of production of lymphocytes

Question 21

what is seen on skin in SCID

Answer 21

graft vs host disease

Question 22

clinical phenotype of SCID

Answer 22

FHx of early death

diarrhoea

unwell by 3 months infections

Question 23

when does maternal IgG decline and neonatal IgG production start

Answer 23

3 months

Question 24

what is X linked SCID caused by

Answer 24

mutation of component of IL2 receptor

Question 25

what does DiGeorge syndrome result from

Answer 25

deletion of chromosome 22q11 developmental defect of the 3rd/4th pharyngeal pouch

Question 26

Di George syndrome CF

Answer 26

cleft palate

heart disease

low set weird ears

high forehead

Question 27

what occurs in DiG syndrome

Answer 27

T cell immuno deficiency as due to failure of thymic development there is nowhere for the T cells to mature

Hypocalcaemia secondary to hypoparathyroidism

Question 28

what is bare lymphocyte syndrome

Answer 28

failure of expression of HLA molecules

Question 29

what is autoimmune lymphoproliferative syndrome

Answer 29

failure of normal apoptosis

Question 30

what is Bruton’s X-linked hypogammaglobulinaemia

Answer 30

failure to produce mature B cells

Question 31

what is common variable immune deficiency

Answer 31

low IgG IgA and IgE

Question 32

what is CVID associated with

Answer 32

autoimmune disease

Question 33

CF of CVID

Answer 33

recurrent bacterial infections and granulomatous disease

Question 34

what is selective IgA def.

Answer 34

failure of IgA production

Question 35

investigations of B cell def. first line

Answer 35

Total white cell count and differential

Serum immunoglobulins

Serum and urine protein electrophoresis

Question 36

investigations of B cell def. 2nd line

Answer 36

quantitation of B and T cells