Immunology: Chapter 12 Congenital And Acquired Immunodeficiencies

Front 1

What is it called when both B and T cell maturation are defected?

Back 1

SCID

Front 2

X-linked SCID occurs 50% of time. What is mutated? What can't take place?

Back 2

1) the gamma chain of the gammaC recpetor
2) gammaC is receptor for numerous cytokines like IL2,4,7,9,15. Without this receptor lymphocytes can't mature (know IL7 for sure because it is needed for T cell maturation in thymus)

Front 3

What interluekin in particular is needed for lymphocyte proliferation and without results in reduced survival and maturation of lymphocyte precursors?

Back 3

IL7

Front 4

What organisms cause B cell deficiencies?

Back 4

pyogenic bacterial infections

Front 5

what can cause innate immune deficiencies?

Back 5

pyogenic bacteria

Front 6

are NK cells affected by X-linked SCID?

Back 6

yes because they have gammaC receptor that binds IL15 needed for NK proliferation

Front 7

Autosomal SCID is a mutation in what? What results?

Back 7

1) adenosine deaminase (ADA)
2) There is an accumulation of toxic purine metabolites in cells that actively synthesize DNA like lymphocytes

Front 8

What is the difference in maturation of lymphocytes when someone has X linked vs autosomal SCID?

Back 8

autosomal SCID (ADA) affects both B and T cells preventing stem cells from becoming pro T cells and pro B cells. Whereas X linked only effects stem cells becoming pro T cells

Front 9

What stage of lymphocyte maturation does RAG deficiency effect?

Back 9

pro B and T cells becoming pre B and T cells

Front 10

What is RAG deficiency?

Back 10

it is an autosomal SCID

Front 11

What is the most common syndrome affecting B cell maturation?

Back 11

X linked agammaglobulinemia

Front 12

What is deficient in X linked agammaglobulinemia?

Back 12

B cell tyrosine kinase or Bruton tyrosine kinase (Btk)

Front 13

What stage of development does a Btk deficiency impact in B cell maturation?

Back 13

pre B cell to immature B cell

Front 14

What chromosome is the Btk gene on?

Back 14

X

Front 15

What condition can develop secondary to agammaglobulinemia?

Back 15

arthritis

Front 16

What causes DiGeorge syndrome?

Back 16

incomplete development of the thymus and parathyroid glands

Front 17

Do patients with DiGeorge tend to deteriorate or improve?

Back 17

improve with age

Front 18

In X linked SCID what is the relation of T cells to B cells to Ig?

Back 18

low T, normal to high B and low Ig

Front 19

What is seen in PNP deficiency in terms of numbers of T, B cells and Ig?

Back 19

decrease B, T and Ig

Front 20

What happens with a PNP mutation?

Back 20

accumulate toxic metabolites

Front 21

Are the autosomal SCIDs dominant or recessive?

Back 21

recessive

Front 22

A deletion at 14q32 causes what?

Back 22

Ig heavy chain deletion resulting in absent IgG1, IgG2, IgG4 and sometimes absent IgA and/or IgE

Front 23

What is the relation in di george of B and T cells and Ig?

Back 23

low T, normal B, normal or low Ig

Front 24

Embryologically what occurs to cause Di Georges syndrome?

Back 24

anomalous development of 3rd and 4th branchial pouches

Front 25

What is defective in X-linked hyper IgM syndrome?

Back 25

1) There is no B cell heavy chain isotype switching so the IgM is predominate antibody
2) cell mediated immunity cannot activate macrophages because of CD40L mutation
3) overall impairment of both cell mediated and humoral immunity

Front 26

Where is the mutation that causes X-linked hyper IgM syndrome? What is this gene products function?

Back 26

CD40L is mutated and is the helper T cell protein that binds to C40 on macrophages and B cells to stimulate them

Front 27

What antibody is frequently defective but causes no clinical problems?

Back 27

IgA

Front 28

What is deficient in common variable immunodeficiency?

Back 28

reduced or no production of certain immunoglobulins

Front 29

What causes common variable immunodeficiency?

Back 29

mutations in receptor for B cell growth factors

Front 30

What do patients with common variable immunodeficiency suffer from?

Back 30

recurrent infections, autoimmune disease and lymphomas

Front 31

What is the bare lymphocyte syndrome? What process can't occur because this syndrome?

Back 31

1) failure to express MHC II molecules
2) Antigen presentation to T cells

Front 32

What causes chronic granulomatous disease? What results? How does the immune system compensate?

Back 32

1)mutations in the enzyme phagocyte oxidase. When organisms are absorbed they can not be oxidized in neutralphils and macrophages
2) The immune system produces an abundance of phagocytes that form granulomas

Front 33

What do C3 deficiencies result in? what do C2 and C4 deficiencies result in?

Back 33

1) severe possibly fatal infections
2) immune-complex mediated diseases resembling lupus

Front 34

What part of the complement system are C2 and C4 in?

Back 34

classical pathway Note that people are not prone to infections when these are deficient like they are when C3 is absent

Front 35

What occurs in Chediak-Higashi syndrome?

Back 35

immunodeficiency from lysosomal granules in leukocytes not functioning properly. Effects phagocytes and NK cells

Front 36

What is the Wiskott-Aldrich syndrome characterized by and what causes it?

Back 36

patients have eczema, thrombocytopenia, and immunodeficiency
It is an X-linked disease that causes malformation of cytoskeletal proteins in hematopoeitic cells

Front 37

Someone has ataxia, vascular malformations and immunodeficiency. What might they have?

Back 37

ataxia-telangectasia disease with mutations in genes involved in DNA repair enzymes

Front 38

In developed countries what are the most common causes of immunodeficiency?

Back 38

bone marrow cancers and various drug therapies

Front 39

What is a common cause of immunodeficiency in developing countries?

Back 39

protein deficiency

Front 40

absent expression of beta 2 integrin from mutations in the beta 2 gene is what disease?

Back 40

leukocyte adhesion deficiency-1

Front 41

Leukocyte adhesion deficiency-2 has what mutations?

Back 41

absent expression of leukocyte ligands for endothelial E and P selectins causing failure of leukocyte migration into tissues

Front 42

What is the major envelope gp of HIV that allows it to infect CD4 cells?

Back 42

gp120

Front 43

What receptor is located only on T cells that allows uptake of HIV?

Back 43

CXCR4

Front 44

What receptor is located on both macrophages and T cells that allows uptake of HIV?

Back 44

CCR5

Front 45

What is the integrated HIV DNA known as?

Back 45

provirus

Front 46

Most AIDS cases are caused by which strain of HIV?

Back 46

HIV-1

Front 47

After initial HIV infection what occurs?

Back 47

viremia

Front 48

What gene mutation may allow a person to remain disease free for years even though they have HIV infection?

Back 48

CCR5 mutations preventing uptake into macrophages

Front 49

What symptoms are present initially after an HIV infection?

Back 49

fever and malaise for 2-3 days then the virus becomes latent

Front 50

What oncogenic viruses are people with AIDS susceptible to? What are the cancers that result?

Back 50

1) HSV8 causes kaposis sarcoma
2) EBV causes B cell lymphoma

Front 51

What is the dementia in AIDS thought to be caused by?

Back 51

infection of microglial cells in brain

Front 52

What surface molecule does HIV inhibit that prevents CTL from targeting infected cells?

Back 52

MHC I

Front 53

What is absent in leukocyte adhesion deficiency 2?

Back 53

absence of neutrophil sialyl-LewisX, a ligand of E-selectin on vascular endothelium.