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CMD Block 2 > Lecture 14: Inherited Disorders > Flashcards

Lecture 14: Inherited Disorders Flashcards

1
Q

Neutrophil deficiency is associated with inefficient:

A

Pathogen clearance

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2
Q

What cells (other than NK) will be affected by a genetic deficiency in proper perforin formation?

A

CTL

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3
Q

NFkB

A

Transcription factor involved in toll like receptor signaling

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4
Q

Defective NFkB

A

Defective innate recognition of infection

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5
Q

Deficiency results in RBC destruction by MAC (2)

A

RBC are not correctly protected from complement proteins due to DAF or CD59 (prevents C9 binding) deficiency

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6
Q

What is the consequence of IgM having no Fc receptors?

A

Degradation of antigen relies on complement cascade (not macrophages)

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7
Q

What is the cause of immune-complex disease?

A

Failure to clear Ag-Ab immune complexes

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8
Q

What results from improper immune-complex disposition? In what major locations does this occur (2)?

A

Inflammation, especially vasculitis and glomerular nephritis

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9
Q

What role does MBL (mannose binding lectin) play in protection against sepsis?

A

Protects circulation against infection (because recognizes pathogen specific components)

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10
Q

Why is MBL a better complement pathway than alternative?

A

Alternative relies on constantly produced C3, but MBL recognizes structures on pathogens

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11
Q

Glycophosphatidylinosital deficiency

A

Paroxysmal Nocturnal Hemoglobulinuria

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12
Q

Glycophosphatidylinosital is…

A

molecule that anchors proteins into the cell membrane

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13
Q

How does Paroxysmal Nocturnal Hemoglobulinuria affect RBC?

A

RBC are destroyed–usually protected from complement-related degradation by DAF/CD59 (which are deficient in PNH)

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14
Q

X-Linked Agammaglobulinemia results in

A

Patient lacks mature B cells, thus no immunoglobulin in the serum (B cell maturation halts at pre-B cell stage due to defective tyrosine kinase signaling; Small B cell repertoire)

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15
Q

T/F: AID deficiency results in no activated B cells

A

F: activation occurs, but no class switching + somatic hypermutation (because AID enzyme required for these)

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16
Q

In X linked hyper IgM syndrome, a defect of _____ causes susceptibility to extracellular and intracellular bacteria

A

CD40L; B cells (and macrophages) do not receive the 2nd signal of activation on their CD40, thus do not undergo germinal center reactions (isotype switching)

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17
Q

Associated with no germinal center reactions

A

X linked hyper IgM syndrome (B cells do not receive the second signal of activation due to CD40L deficiency on T cells)

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18
Q

What immune cell will be affected by IgG1 deficiency?

A

NK

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19
Q

TAP deficiency results in

A

few CD8 T cells produced (because MHC I do not provide signal for positive selection in thymus)

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20
Q

No MHC Class II results in..

A

No CD4 T cells (because MHC II do not provide signal for positive selection in thymus)

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21
Q

How does gamma chain deficiency relate to failure in T cell proliferation?

A

gamma chain is a signaling component for cytokine receptors–such as IL2 and IL4

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22
Q

How does CD3 deficiency affect T cells?

A

It is the signal transduction unit, so no T cell function (SCID)

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23
Q

What is the result of RAG enzyme defect?

A

No VDJ recombination, which results in no B cells and low numbers of oligoclonal autoreactive T cells

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24
Q

Asplenic patients are especially susceptible to this pathogen

A

encapsulated bacteria

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25
Q

What is the immuno role of the spleen?

A

As it filters blood, splenic macrophages take up bacteria in the blood–this guards against sepsis

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26
Q 
What is the disease? 
Defective CD18 (adhesion molecules) results in defective migration of phagocytes into infected tissue.
A

Leukocyte adhesion deficiency

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27
Q

What is the disease?

Defective NADPH oxidase results in the inability of phagocytes to produce ROS, impairing their ability to kill bacteria.

A

Chronic granulomatous disease

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28
Q

What is the disease?

Deficiency of G-6P dehydrogenase results in a defective respiratory burst

A

Glucose-6-P dehydrogenase deficiency (duh)

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29
Q

Deficiency of this enzyme found in neutrophil granules and macrophage lysosomes results in impaired production of ROS

A

Myeloperoxidase (catalyzes production of hypochlorous acid)

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30
Q

What is the disease?

Defective vesicle fusion (endosomes and lysosomes) results in impaired phagocytosis

A

Chediak-Higashi Syndrome

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31
Q

Neutropenias are characterized by low numbers of:

A

granulocytes (neutrophils <500 cells/ul)

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32
Q

T/F: Neutrophil specific autoimmune antibodies can cause neutropenia.

A

T

33
Q

What is the difference between Absolute, Classical, and Functional NK Cell Deficiency?

A

ANKD: complete lack of cells or functional cells
CNKD: ANKD, but NKT cells are present
FNKD: Normal # NK cells, but their function is absent or severely decreased

34
Q

What infections are common in patients with NK deficiency?

A

varicella zoster virus, Mycobacterium avium, Trichophyton

35
Q

3 Possible causes of NK Cell Deficiency Disorders.

A

Defective granule formation
Defective perforin
Improper development of NK cells in bone marrow

36
Q

What’s the disease?

Defect in protein necessary for NFkB activity, resulting in recurrent bacterial infections

A

NEMO Deficiency (innate recognition disorder in which PRR’s recognize PAMPs, but there is an error in getting the proper genes transcribed)

37
Q

Most likely result of Inherited Complement Deficiencies

A

Susceptibility to extracellular bacteria (especially encapsulated, because PRRs cannot not recognize them)

38
Q

Why does Factor I deficiency cause C3 depletion?

A

C3 is produced at a constant rate; when C3b is cleaved by Factor I the cascade stops; in the absence of Factor I C3 is utilized in the pathway

39
Q

HANE is caused by:

A

C1INH deficiency (classical pathway)–and overproduction of anaphylatoxins

40
Q

C5-C9 deficiency causes:

A

Neisseria susceptibility

41
Q

Deficiency of this causes susceptibility to encapsulated bacteria and Neisseria, but no immune-complex disease

A

Factor D

42
Q

Why are encapsulated bacteria tough to eliminate?

A

They are not susceptible to phagocytosis

43
Q

What is the result of Ab deficiencies?

A

increased susceptibility to extracellular pathogens

44
Q

Result of X-Linked Agammaglobulinemia?

A

Very few B cells develop, patient has no humoral immunity

45
Q

Defect causing X-Linked Agammaglobulinemia

A

Defect in protein tyrosine kinase involved in B cell development

46
Q

Result of Lambda-5 Deficiency?

A

B cell deficiency due to lack of pre-B cell receptor

47
Q

What is Lambda-5?

A

Portion of surrogate light chain that pairs with heavy chain during somatic recombination of B cells

48
Q

What two defects cause X-linked hyper IgM Syndrome?

A

T cell function due to defective CD40L and AID deficiency

49
Q

What are the lymph nodes of patients with X-linked hyper IgM Syndrome different than a normal patient’s?

A

no germinal center reactions

50
Q

Selective IgG deficiency–with deficiency of IgG2 subtype–results in susceptibility to what?

A

encapsulated bacteria

51
Q

TAP Transporter Deficiency (aka Bare Lymphocyte Syndrome) results in….which ultimately leads to…

A

Low levels of MHC I; low CD8 due to low positive selection during thymic development

52
Q

Defect in CD8 alpha chain results in:

A

lack of CD8

53
Q

Low/No CTL activity, normal CD8, inability of CTL to induce apoptosis. What is defective?

A

Perforin

54
Q

Defects in what causes SCID?

A

CD4/(8 T Cell) ** mostly CD4 bc w/o these, no B cells active

55
Q

Defective cytoskeleton reorganization, resulting in a lack of cytokine delivery to B cells and macrophages

A

Wiskott-Aldrich Syndrome (cross-talk deficiency)

Defective T cells –> no active B cells = SCID

56
Q

Toxic nucleotide metabolites accumulate and kill developing B/T cells

A

Adenosine Deaminase or Purine Nucleotide Phosphorylase Deficiency

57
Q

Result of Jak3 Deficiency:

A

impaired cytokine signaling, resulting in failed T cell proliferation–no effector T cells

58
Q

Caused by partially active RAG enzymes:

A

Omenn Syndrome (disorder characterized by no B cells and low numbers of oligoclonal auto-reactive T cells)

59
Q

DiGeorge Syndrome

A

absent or underdeveloped thymus, resulting in few/no T cells

60
Q

ZAP-70 Deficiency

A

No signaling at TCR (because ZAP is a component of a tyrosine kinase involved in TCR complex); results in no CD8 and normal # of non-functional CD4

**implies that intracellular signaling is required for CD8 development but not required for CD4 development

61
Q

Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy

A

deficiency in AIRE, a transcription factor that regulates the proteins responsible for negative selection of T cells in thymus

**results in many auto-reactive T cells -> develop myriad of autoimmune disorders

62
Q

What’s the disease?

Deficiency in FoxP3 expression in Treg cells

A

IPEX (results in nonfunctional Treg cells)

63
Q

ALPS

A

Result of failure of immune cells to undergo apoptosis following an immune response (due to Fas, FasL or caspase 10 mutation)

64
Q

ALPS has what effect on secondary lymphoid tissue

A

causes overpopulation due to lack of apoptosis

65
Q

Indicative of Good’s Syndrome (3):

A

hypogammaglobulinemia, low levels of B cells, benign thymic tumor

(Decreases CD4:CD8 ratio (from tumor)-> dec CD4 is why you see no B cells) * this is just so that it makes sense in my mind, don’t actually know if that is all true)

66
Q

Myelokathexis

A

neutrophil retention in the bone marrow

67
Q

Short stature/arms/legs, sparse hair, anemia, and immune problems

A

Cartilage Hair Hypoplasia

68
Q

What’s the disease?

Genetic defect in a cluster of proteins responsible for DNA repair, results in bone marrow failure

A

Fanconi’s Anemia

69
Q

Disorder characterized by albinism and immunodeficiency, with mutations involving vesicular transport (thus affecting granule/cytokine delivery by NK and T cells)

A

Griscelli Syndrome

70
Q

What are the 2 clinical interventions for asplenia?

A
  1. Vaccination for encapsulated organisms

2. Prophylactic abx prior to dental procedures and at the 1st signs of respiratory infection or fever

71
Q

What are the 3 most common types of neutropenia?

A
  1. severe congential
  2. cyclic
  3. benign chronic
72
Q

What do NKT cells recognize?

A

CD 1 (NOT MHC-Ag complex)`

73
Q

What disorder causes a lack of immune response to the binding of PAMPs to Toll-like receptor on the surface of phagocytes?

A

NEMO deficiency

74
Q

What is the treatment for NEMO?

A
  • biweekly injections of gamma globulin from healthy donor

- Bone marrow transplant

75
Q

SCID (severe combined immune deficiency) is associated with defective:

A

T cells (CD4 and CD8) and B cells

76
Q

Asplenic patients are especially susceptible to this condition:

A

Sepsis (no macrophage mediated blood filtering)

77
Q

What is NFkB?

A

Transcription factor involved in the expression of cytokines/chemokines, which occurs after a Toll-like receptor recognizes a pathogen

78
Q

What would be the immuno result of Toll-like receptor deficiency?

A

The patient would have a reduced ability to recognize bacterial and viral pathogens

CMD Block 2 (38 decks)

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