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Immunology - DVM year 1 > Exam 3: Dr. Pinchuk Immunodeficiency Diseases > Flashcards

Exam 3: Dr. Pinchuk Immunodeficiency Diseases Flashcards

1
Q

What are the affected genes of SCID?

A

RAG1 or RAG2

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2
Q

What is the immune defect of SCID?

A

No gene rearrangements in B cells and T cells

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3
Q

What are the affected genes of omenn syndrome?

A

RAG1 or RAG2 or Artemis

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4
Q

What is the immune defect of omenn syndrome?

A

Impaired RAG function

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5
Q

What are the affected genes of bare lymphocyte syndrome?

A

TAP1 or TAP2

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6
Q

What is the immune defect of bare lymphocyte syndrome?

A

Low MHC class I expression

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7
Q

What are the affected genes of complete DiGeorge’s syndrome?

A

No known

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8
Q

What is the immune defect of complete DiGeorge’s syndrome?

A

Absence of the thymus and T cells

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9
Q

What are the affected genes of autoimmune polyendocrinopathy candidiasis ectodermal dystrophy(APECED)?

A

Autoimmune reglator (AIRE)

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10
Q

What is the immune defect of APECED?

A

Reduced T cell tolerance to self antigens

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11
Q

What are the affected genes of IPEX?

A

FOXP3

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12
Q

What is the immune defect of IPEX?

A

Lack of regulatory T cells and peripheral tolerance

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13
Q

What are rare primary immunodeficiency diseases caused by?

A

Exceedingly rare mutant alleles of immune genes without selective benefit for the individuals who carry them

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14
Q

Where are rare primary immunodeficiency diseases found?

A

In small geographically or culturally isolated populations

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15
Q

What do rare primary immunodeficiency diseases help to do?

A

Recognize the novel forms of immunodeficiency syndrome

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16
Q

What are the primary immunodeficiency diseases?

A

Dominant
Recessive
X-linked

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17
Q

What do recessive and dominant mutations in the INF-γ receptor cause?

A

Diseases of different severity

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18
Q

Describe INF-γ

A

Major cytokine that activates macrophages
Made by NK, Th1 CD4 and cytotoxic CD8 cells
Important in the defense against intravesicular bacteria

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19
Q

What happens in X-linked agammaglobulinemia (XLA)?

A

B cells do not develop beyond the pre-B cell stage

20
Q

What is the defect in XLA?

A

Bruton’s tyrosine kinase protein that contributes to intracellular signaling from the BCR involved in growth and differentiation of pre-B cells

21
Q

What does antibody deficiency with B cells lead to?

A

An inability to clear extracellular bacteria

22
Q

Describe antibody deficiency with T cell help

A

X-linked hyper IgM syndrome
No specific antibody is made against T cell-dependent antigens
IgG, IgA, and IgE are virtually absent, however IgM is extremely high

23
Q

How can antibody deficiency with T cell help be treated?

A

Regular injection of gamma globulin

24
Q

What do defect in phagocytes result in?

A

Enhanced susceptibility to bacterial infection

25
Q

What do defects in T cell functions cause?

A

SCID

26
Q

What are the different SCID phenotypes that can arise?

A

X-linked deficiency (common gamma chain syndrome and Wiskott-Aldrich syndrome)
Bare lymphocyte syndrome

27
Q

Describe common gamma chain syndrome

A

Protein subunit of several cytokine receptors, IL-2, 4, 7, 9, 15
Cytokine signaling is affected

28
Q

Describe Wiskott-Aldrich syndrome

A

Involves the impairment of platelets and T cells
WASP-protein involved in cytoskeletal reorganization of T cells
T cells cannot deliver cytokines and signals to B cells, macrophages, and other target cells

29
Q

Describe bar lymphocytes syndrome

A

Lack of MHC class I-II, MHC class I absence is less severe

30
Q

Describe ADA or PNP deficiencies

A

Defects in the enzymes are responsible for burin degradation

Accumulation of nucleotide metabolites are extremely toxic to developing T cells

31
Q

What does HIV infect?

A

CD4 T cells, macrophages, and DC

32
Q

What is favored the HIV life cycle?

A

CD4

33
Q

What happens at the end of the HIV life cycle?

A

New viruses are assembled and leave the cell

34
Q

What does HLA polymorphism do?

A

Influences the progression of AIDS

35
Q

What does KIR polymorphism do?

A

Influences the progression of AIDS suggesting that the type of NK cell response at the start of HIV infection affects the relative success of the subsequent adaptive response

36
Q

What does the genetic deficiency of the CCR5 co-receptor for HIV confer?

A

Resistance to infection

37
Q

What makes it difficult to develop a vaccine against HIV and other retroviruses?

A

High mutation rates

38
Q

What are potential targets for anti-HIV drugs?

A

Viral reverse transcriptase that is responsible for the provirus synthesis
Viral protease that cleaves viral proteins

39
Q

How long does the resistance to protein inhibitors take?

A

A few days

40
Q

How long does the resistance to the reverse transcriptase inhibitor zidovudine take?

A

Months

41
Q

What is the use of several antiviral drugs called?

A

Combination therapy or highly active anti-retroviral therapy

42
Q

What is the purpose of highly active anti-retroviral therapy?

A

To destroy the entire population of viruses before any one of them has accumulated enough mutations to resist all the drugs

43
Q

What are the proteins that are anti-viral drugs on the polymerase gene?

A

Reverse transcriptase
Protease
Integrase enzymes

44
Q

What is the mechanism of antiviral drugs?

A

Productive infection of CD4 T cells accounts for more than 99% of virus in plasma
Infected cells are short-lived, so HIV must continually infect new cells
If virus production is blocked by a drug, the virus is rapidly cleared from the blood
CD4 T cell numbers rapidly increase, replacing those lost by infection

45
Q

What does HIV infection lead to?

A

Immunodeficiency and death from opportunistic infections

46
Q

What infections can HIV lead to?

A

Parasites
Bacteria
Fungi
Viruses

47
Q

What malignancies can HIV lead to?

A

Kaposi’s sarcoma
Non-hodgkin’s lymphoma
Primary lymphoma of the brain

Immunology - DVM year 1 (35 decks)

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