Immunology pathophysiology

Question 1

how is chronic granulomatous disease inherited

Answer 1

autosomal recessive

Question 2

how is severe combined immunodeficiency inherited and pathophysiology

Answer 2

autosomal recessive - adenosine deaminase deficiency
x-linked recessive - IL-2 gamma chain defect
RAG mutation –> VDJ defect

Question 3

how is ataxia telangiectasia inherited

Answer 3

autosomal recessive

Question 4

how is jobs syndrome inherited

Answer 4

autosomal dominant

Question 5

pathophysiology of chronic granulomatous disease

Answer 5

genetic defect in NADPH oxidase –> reduced oxidised species and respiratory burst of neutrophils

Question 6

features of chronic granulomatous disease

Answer 6

granulomas
susceptible to catalase positive organisms infections

Question 7

pathophysiology of severe combined immunodeficiency (SCID)

Answer 7

3 modes of inheritence;
X-linked recessive: impaired IL-2R gamma chain
autosomal recessive: adenosine deaminase deficiency
RAG mutation –> VDJ recombinant defect

Question 8

features of SCID

Answer 8

failure to thrive
chronic diarrhoea
recurrent infections

Question 9

pathophysiology of ataxia telangiectasia

Answer 9

mutation in ATM gene –> impaired detection of DNA damage –> unable to arrest cell cycle –> mutations accumulate

Question 10

features of ataxia telangiectasia

Answer 10

ataxia (cerebellar damage)
spinder angiomas (telangiectasia)
elevated AFP
lymphopenia
low IgG, IgE and IgA

Question 11

pathophysiology of JOBs syndrome

Answer 11

defective Th17 cells due to STAT3 mutation

Question 12

features of jobs syndrome

Answer 12

Abscesses
Baby teeth (retained)
Coarse facial features
Dermatological problems
Elevated IgE and eosinophils
Fractures

Question 13

absence of germinal center on lymph node biopsy

Answer 13

SCID

Question 14

nitroblue tetrazolium dye reduction test fails to turn blue

Answer 14

chronic granulomatous deficiency

Question 15

patients with ataxia telangiectasia are at increased risk of what condition

Answer 15

leukaemia, lymphoma

Question 16

in what immunodeficiency are live vaccines contraindicated

Answer 16

x-linked (bruton) agammaglobulinaemia

Question 17

pathophysiology of Bruton agammaglobulinaemia

Answer 17

x-linked recessive
mutation of BTK –> tyrosine kinase gene = impaired B cell maturation

Question 18

features of Bruton aggamaglobulinaemia

Answer 18

infections of bacteria and enteroviruses
low immunoglobulins
scanty/absent lymph nodes and tonsils

Question 19

most common primary immunodeficiency

Answer 19

IgA deficiency

Question 20

low IgA but normal IgG and IgE and IgM

Answer 20

IgA deficiency

Question 21

false negative coeliac disease test and false negative pregnancy test

Answer 21

IgA deficiency

Question 22

persistent candida infections of skin and mucous membranes

Answer 22

chronic mucocutaneous candidiasis

Question 23

pathophysiology of chronic mucocutaneous candidiasis

Answer 23

defects in AIR-E
impaired cell-mediated immunity against candida species
impaired T cell formation

Question 24

features of wiskott-aldrich

Answer 24

WATER
wiskott-aldrich
thrombocytopenia
eczema
recurrent infections

elevated IgG and IgE

Question 25

inheritance of wiskott aldrich

Answer 25

x-linked recessive

Question 26

pathophysiology of wiskott-aldrich

Answer 26

WAS gene mutation leukoocytes and platelets unable to recognise actin in cytoskeleton = defective antigen presentation

Question 27

pathophysiology of leukocyte adhesion deficiency

Answer 27

genetic defect of LFA-1 (CD18) integrin protein leading to impaired migration and chemotaxis

Question 28

inheritance of leukocyte adhesion deficiency

Answer 28

autosomal recessive

Question 29

features of leukocyte adhesion deficiency

Answer 29

late separation of umbillical cord absence of pus dysfunctional neutrophils = recurrent bacterial infections high blood neutrophils but low neutrophils at infection site

Question 30

inheritance of chediak higashi syndrome

Answer 30

autosomal recessive

Question 31

features of chediak-higashi

Answer 31

PLAIN) progressive neurodegeneration lymphohistocytosis albinism infections (recurrent pyogenic infections) neuropathy (peripheral) also bleeding defects and low platelets

Question 32

pathophysiology of chediak-higashi

Answer 32

defect of lysosomal tracking regulator gene (LYST) = microtubular dysfunction in lysosomal-phagocyte adhesion microtubule dysfunction

Question 33

what protozoal infection are people with IgA deficiency at risk of

Answer 33

giardiasis

Question 34

features of hyper IgM syndrome

Answer 34

low immunoglobulins but elevated IgM opportunistic infections

Question 35

pathophysiology of hyper igM syndrome

Answer 35

x-linked recessive defect in CD40L on T helper cells

Question 36

what immunoglobulin levels would you find in Jobs syndrome

Answer 36

elevated IgE eosinophillia

Question 37

low Ig but elevated IgM

Answer 37

hyper IgM syndrome