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BSCI422 > Exam 3: Immunodeficiencies > Flashcards

Exam 3: Immunodeficiencies Flashcards

1
Q

What are the two types of immunodeficiencies?

A
  1. Primary (genetic/inherited)

2. Secondary (acquired)

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2
Q

What is immmunosupression?

A

Intentional induction of an immunodeficiency as a treatment to autoimmune disease

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3
Q

What things can detect immunodeficiency?

A

Generally found during childhood

  1. Recurrent infection
  2. Test for presence or test function of implicated components of immune system
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4
Q

Types of immunodeficiencies?

A
  1. COmplement protein deficiencies
  2. B cell deficiencies
  3. T cell deficiencies
  4. Phagocyte deficiencies
  5. NK deficiencies
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5
Q

Describe Complement protein deficiencies

A
  1. Mutation in gene for specific complement component
  2. most affect opsonin function- susceptible to pus-causing 9(PYOGENIC) extracellular bacteria such as Streptococcus spp. and Staphylococcus spp. (C3b, Factor D, Factor P)
  3. Defects in MAC components (C5-C9 lead to selective susceptibility to Neisseria spp. infections
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6
Q

In the classical pathway, deficiencies in C1, C2, and C4 lead to what type of hypersensitivity?

A

TYPE III –> buildup of immune complexes as Ag-Ab are not cleared

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7
Q

What do alternative pathway and C3b deficiencies make you susceptible to?

A

Pyogenic bacteria such as Streptococcus spp. and Staphylococcus spp.

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8
Q

Describe B Cell/Antibody Deficiencies

A

defects in responses to extracellular bacteria and viruses

  1. Btk mutation –> Bruton’s X-linked Agammaglobulinemia
  2. Hyper-IgM syndromes
  3. Selective IgA deficiency, common variable immunodeficiencies (Igm, IgG, IgA deficiencies
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9
Q

Describe Bruton’s X linked Agammaglobulinemia

A

BLOCK IN B CELL DEVELOPMENT, no peripheral B cells, no serum Ig

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10
Q

Describe Hyper-IgM syndromes

A

DEFECT IN B CELL ACTIVATION AND CLASS SWITCHING
lots of IgM but little or no IgA, IgG, or IgE
X-linked version caused by CD40L mutation –> T and macrophage defects as CD40L involved in activation of these
Autosomal version caused by mutation in AID which is involved in class switching and somatic hypermutation

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11
Q

Describe T cell deficiencies

A

often lead to Severe Combined Immunodeficiencies (SCIDs) –> increased susceptibility to all classes of pathogen

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12
Q

What is X-linked scid

A

early block in T cell development, so no peripheral T cells (do have B cells though)

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13
Q

What is Bare Lymphocyte Syndrome

A

loss of MHC molecules –> defects in TAP genes cause loss of MHC I expression so no CD8+ T cells
mild immunodeficiency
defects in TF’s controlling MHC II gene expression (CIITA, RFXANK, RFX5, RFXAP)–> block CD4+ T cell development and results in SCID

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14
Q

What is DiGeorge’s Syndrome

A

TBX1 deletion–> single-copy deletion of TF T-Box1–? defect in thymic epithelium development (Haploinsufficiency)

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15
Q

Other forms of T cell deficiencies besides X-linked scid, Bare Lymphocyte Syndromes, and DiGeorge’s syndrome include __

A

Defects in T cell signaling molecules like CD3 and ZAP-70

Defections in cytokine expression, cytokine receptors, or cytokine signaling molecules ( IL-7)

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16
Q

CD3 leads to

A

scid and MHC defect

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17
Q

B/T Cell Deficiencies

A

some forms of SCID that result in lack of B and T cells

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18
Q

Mutations/defects in what enzymes lead to B/T cell deficiencies

A

ADA and PNP lead to autosomal SCIDS

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19
Q

RAG1/RAG2 defects lead to what?

A

B/T Cell Deficiency

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20
Q

Autosomal scid lead to unrepaired double-strand breaks during TCR and BCR locus rearrangement. What happens

A

B and T cell precursors die

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21
Q

taxia telangiectasia (ATM defect) (B/T Cell deficiency)

A

protein involved in signaling presence of DNA double-strand breaks –> failure to induce DNA repair during T and B cell development

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22
Q

Describe Phagocyte Deficiencies

A

Phagocytes important to initial responses to bacteria sp deficiency leads to susceptibility to bacterial infections

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23
Q

What is Neutropenia?

A

Reduced # of Neutrophils

24
Q

2 types of Neutropenia

A
  1. Severe congenital neutropenia–> dominant or recessive (exhibit <10% of normal neutrophil count and is fatal without bone marrow transplant)
  2. Cyclic neutropenia –> neutrophil #’s fluctuate over 21 day period from normal to low/none
25
Q

Leukocyte adhesion deficiency syndrome is what type of deficiency

A

Phagocyte (defect in integrin common beta2 subunit CD18)

leads to widespread pyogenic bacterial infections that are dependent on macrophage phagocytosis

26
Q

What are some disorders associated with defects in intracellular killing mechanisms of phagocytes?

A
  1. Chronic granulomatous disease -> defect in NADPH oxidase system (failure to make superoxide radical) really hard to kill intracellular bacteria leading to granulomas against bacteria that normally are uptaken by macrophages
  2. G6PD deficiency–> chronic infection from defective respiratory burst
  3. Myeloperoxidase deficiency–> Defective intracellular. killing. chronic infection
  4. Chediak-Higashi syndrome
    - -> defect. in lysosome-phagosome
27
Q

What do integrins facilitate

A

Cell adhesion molecules

28
Q

What type of immunodeficiency? Chronic granulomatous disease

A

Phagocyte

29
Q

What type of immunodeficiency?

G6PD deficiency

A

Phagocyte

30
Q

What type of immunodeficiency?

Myeloperoxidase deficiency

A

Phagocyte

31
Q

What type of immunodeficiency?

Chediak-Higashi syndrome

A

Phagocyte

32
Q

What type of immunodeficiency?

Neutropenia

A

Phagocyte

33
Q 
What type of immunodeficiency?
taxia telangiectasia (ATM defect)
A

T/B cell

34
Q

What type of immunodeficiency?

RAG1/RAG2 defects

A

T/B cell

35
Q

What type of immunodeficiency?

Bruton’s X linked Agammaglobulinemia

A

B cell

36
Q

What type of immunodeficiency?

Hyper-IgM syndromes

A

B cell

37
Q

What type of immunodeficiency?

elective IgA deficiency, common variable immunodeficiencies (Igm, IgG, IgA deficiencies

A

B cell

38
Q

What type of immunodeficiency?

SCIDs

A

T cell

39
Q

What type of immunodeficiency?

X-linked scid

A

T cell

40
Q

What type of immunodeficiency?

Bare Lymphocyte Syndrome

A

T cell

41
Q

What type of immunodeficiency?

DiGeorge’s Syndrome

A

T cell

42
Q

What type of immunodeficiency?

CD3 and ZAP-70

A

T cell

43
Q

What type of immunodeficiency?

Defections in cytokine expression, cytokine receptors, or cytokine signaling molecules ( IL-7)

A

T cell

44
Q

What type of immunodeficiency?

ADA and PNP enzyme defect

A

T/B cell

45
Q 
What type of immunodeficiency?
taxia telangiectasia (ATM defect)
A

t/B cell

46
Q

Which cytokine defects lead to susceptibility to otherwise non-pathogenic intracellular. bacteria. like Mycobacterium. spp. and Salmonella spp.

A

IL-12, IL-12R or IFN-gammaR

(TH1) responses

47
Q

What immunodeficiency leads to defective control of Epstein-Barr virus?

A

X-linked lymphoproliferative syndrome (SAP defect)

SAP important for B cell/T cell adhesion

48
Q

What does Epsetin-Barr virus infect?

A

B cells; cause mono

49
Q

SAP defect leads to what effect of B cells?

A

B cell hyperproliferation coupled with insufficient T cells as SAP is involved in regulating IFN-gamma;
CD8+ T cells must kill B cells

50
Q

What is the main treatment for immunodeficiencies?

A

Bone-marrow transplantation (BMT)–> this requires at least one MHC allele in common between graft and patient

51
Q

What are some potential problems with bone marrow. transplant?

A
  1. GVHD (Graft vs Host Disease)–> mature T cells in bone marrow graft attack the patient’s tissues (alloreactivity); (Graft rejects patient)
  2. HVGD (Host vs Graft disease) –> patient’s mature T cells and/or NK cells rejects graft
52
Q

T/F GVHD is a systemic immune disease

A

T; Graft can attack any lymphocytes in any tissue in patient

53
Q

What is another treatment for immunodeficiencies besides BMT?

A

Gene therapy

54
Q

What is the goal of gene therapy?

A

Fix mutation causing immunodeficiency. Take bone marrow out of patient and fix it in lab

55
Q

Which deficiencies show more successful treatment via gene therapy?

A

X-linked scid and retroviral transduction

however–> leukemia risk

56
Q

Why is there limited success with ADA gene therapy using mature lymphocytes or cord blood (HSCs) in autosomal scid

A

Can inject correct enzyme ADA into patient but have to do it all the time
Only bone marrow treatment shows prolonged treatment

57
Q

Secondary immunodeficiencies most common cause?

A

MALNUTRITION

BSCI422 (8 decks)

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