11-Failures of the Body's Defenses

Question 1

What happens in genetic variation?

Answer 1

A pathogen changes its surface molecules and escape recognition by Ab’s

Question 2

What is a pandemic?

Answer 2

world wide infection as a result from antigenic shift

Question 3

What is an epidemic?

Answer 3

A local spread of infection

Question 4

What type of mutations cause antigenic drift?

Answer 4

Point mutations

Question 5

What type of change of viral genomes cause antigenic shift?

Answer 5

When they rearrange their segmented genomes. This is bad.

Question 6

How does trypanosomes evade Ab response?

Answer 6

They rearrange their surface Ag’s so Ab’s can’t bind to them

Question 7

How do herpes evade the immune system?

Answer 7

They enter a dormant/latent stage that Tc cells can’t recognize

Question 8

Why are there so many immunodeficiency diseases in males?

Answer 8

It’s a scheme by women to kill off all men. Also X linked.

Question 9

Chronic Granulomatous Disease- cause

Answer 9

Mutation in NADPH Oxidase –> deficiency

Question 10

Chronic Granulomatous Disease- clinical Sx

Answer 10

recurrent infections with catalase + bacteria, granulomas

Question 11

Leukocyte-Adhesion Deficiency- cause

Answer 11

Absence of CD18 –> no binding of leukocytes to come into infected tissues

Question 12

Leukocyte-Adhesion Deficiency- clinical Sx

Answer 12

recurrent infections, can’t form pus, omphalitis

Question 13

Chediak-Higashi Syndrome- cause

Answer 13

granule defect in PMN’s –> phagocytosed material cannot be delivered to lysosomes

Question 14

Chediak-Higashi Syndrome- clinical Sx

Answer 14

Recurrent infections, lymphomas (no NK activity), partial albinism

Question 15

G6PD Deficiency- cause

Answer 15

deficiency in essential enzyme in HMP shunt pathway

Question 16

G6PD Deficiency- clinical Sx

Answer 16

recurrent infections with catalase + bacteria, anemia

Question 17

MPO Deficiency- cause

Answer 17

granule enzyme deficiency

Question 18

MPO Deficiency- clinical Sx

Answer 18

mild to none

Question 19

Job syndrome- cause

Answer 19

TH1 cells cant make IFN-g –> PMN’s can’t respond to chemotactic stimuli

Question 20

Job Syndrome- clinical Sx

Answer 20

carse facies, cold abscesses, retainined 1o teeth, eczema

Question 21

Classical pathway deficiency- cause

Answer 21

Deficiency in C1q, C1r, C1s, C4 or C2

Question 22

Classical pathway deficiency- clinical Sx

Answer 22

immune complex diseases, increasing infections with pyogenic bacteria

Question 23

Alternative Pathway Deficiency- cause

Answer 23

deficiency in factor B or properdin

Question 24

Alternative Pathway Deficiency- clinical Sx

Answer 24

neisserial infections

Question 25

C3 Deficiency- cause

Answer 25

Deficiency in C3 --> cant have either classical or alternative pathway active

Question 26

C3 Deficiency- clinical Sx

Answer 26

recurrent infections, immune complex disease

Question 27

MAC deficiency- cause

Answer 27

Defect in C5-9

Question 28

MAC Deficiency- clinical Sx

Answer 28

recurrent neisserial infections

Question 29

Hereditary Angioedema- cause

Answer 29

C1 inhibitor deficiency --> prolonged activation of classical complement pathway

Question 30

Hereditary Angioedema- clinical Sx

Answer 30

Edema in various tissues

Question 31

X Linked Agammaglobulinemia- cause

Answer 31

tyrosine kinase (btk) deficiency --> B cells cant mature

Question 32

X Linked Agammaglobulinemia- clinical Sx

Answer 32

infections with capsulated bacteria

Question 33

Hyper IgM syndrome- cause

Answer 33

CD40L on T cells missing --> no class switching

Question 34

Hyper IgM syndrome- clinical Sx

Answer 34

recurrent infections and high IgM levels (lol obvi)

Question 35

Common variable immunodeficiency- cause

Answer 35

many causes but there isnt enough Ab production

Question 36

Common variable immunodeficiency- clinical Sx

Answer 36

Recurrent infections, Ig levels decrease

Question 37

Transient Hypogammaglobulinemia of infancy- cause

Answer 37

many, but it's the overall reduction in IgG

Question 38

Transient Hypogammaglobulinemia of infancy- clinical Sx

Answer 38

respiratory infections, pyogenic infections

Question 39

Selective IgA Deficiency- cause

Answer 39

unknown, but lack IgA

Question 40

Selective IgA Deficiency- Clinical Sx

Answer 40

asymptomatic, but increased respiratory infections.

Question 41

Digeorge syndrome- cause

Answer 41

no thymus --> no T cells

Question 42

Digeorge syndrome- clinical Sx

Answer 42

weird face, hypopatathyroidism, cardiac malformations, recurrent viral infections

Question 43

MHC-I Deficiency- cause

Answer 43

failure of TAP1 to transport peptides into ER --> no MHCI w/Ag

Question 44

MHC-I Deficiency- clinical Sx

Answer 44

recurrent viral infections, normal Ab levels, normal Cd8/4 levels

Question 45

MHC-II Deficiency- cause

Answer 45

transcription factor defect --> no MHC-II

Question 46

MHC-II Deficiency- clinical Sx

Answer 46

deficient in CD4 cells, resembles SCID

Question 47

Bare Lymphocyte Syndrome- cause

Answer 47

stops expression of MHCII --> Th cells dont develop

Question 48

Bare Lymphocyte Syndrome- clinical Sx

Answer 48

similiar to DiGeorges, recurrent infections

Question 49

SCID- cause

Answer 49

IL-2 receptor defect --> no growth/differentiation of B or T cells

Question 50

SCID- clinical Sx

Answer 50

GI problems, mouth lesions, recurrent infections

Question 51

Adenosine Deaminase Deficiency (like SCID)- cause

Answer 51

adenosine deaminase deficiency --> prevent DNA synthesis in developing B/T cells

Question 52

Adenosine Deaminase Deficiency (like SCID)- clinical Sx

Answer 52

same as SCID

Question 53

Omenn Syndrome (like SCID)- cause

Answer 53

RAG1/2 nonsense mutations --> no B or T cells

Question 54

Omenn Syndrome (like SCID)- clinical Sx

Answer 54

same as SCID

Question 55

Wiskott-Aldrich Syndrome- cause

Answer 55

defect in cytoskeletal glycoprotein --> decreased Ab's and platelets

Question 56

Wiskott-Aldrich Syndrome- clinical Sx

Answer 56

eczema, thrombocytopenia, immunodeficiency

Question 57

Ataxia telangiectasia- cause

Answer 57

cell cycle kinase mutation --> IgA and IgE deficiency

Question 58

Ataxia telangiectasia- clinical Sx

Answer 58

ataxia, telengiectasia (broken blood vessels)