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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
What is the immuno role of the spleen?
As it filters blood, splenic macrophages take up bacteria in the blood--this guards against sepsis
26
``` What is the disease? Defective CD18 (adhesion molecules) results in defective migration of phagocytes into infected tissue. ```
Leukocyte adhesion deficiency
27
What is the disease? | Defective NADPH oxidase results in the inability of phagocytes to produce ROS, impairing their ability to kill bacteria.
Chronic granulomatous disease
28
What is the disease? | Deficiency of G-6P dehydrogenase results in a defective respiratory burst
Glucose-6-P dehydrogenase deficiency (duh)
29
Deficiency of this enzyme found in neutrophil granules and macrophage lysosomes results in impaired production of ROS
Myeloperoxidase (catalyzes production of hypochlorous acid)
30
What is the disease? | Defective vesicle fusion (endosomes and lysosomes) results in impaired phagocytosis
Chediak-Higashi Syndrome
31
Neutropenias are characterized by low numbers of:
granulocytes (neutrophils <500 cells/ul)
32
T/F: Neutrophil specific autoimmune antibodies can cause neutropenia.
T
33
What is the difference between Absolute, Classical, and Functional NK Cell Deficiency?
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
What infections are common in patients with NK deficiency?
varicella zoster virus, Mycobacterium avium, Trichophyton
35
3 Possible causes of NK Cell Deficiency Disorders.
Defective granule formation Defective perforin Improper development of NK cells in bone marrow
36
What's the disease? | Defect in protein necessary for NFkB activity, resulting in recurrent bacterial infections
NEMO Deficiency (innate recognition disorder in which PRR's recognize PAMPs, but there is an error in getting the proper genes transcribed)
37
Most likely result of Inherited Complement Deficiencies
Susceptibility to extracellular bacteria (especially encapsulated, because PRRs cannot not recognize them)
38
Why does Factor I deficiency cause C3 depletion?
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
HANE is caused by:
C1INH deficiency (classical pathway)--and overproduction of anaphylatoxins
40
C5-C9 deficiency causes:
Neisseria susceptibility
41
Deficiency of this causes susceptibility to encapsulated bacteria and Neisseria, but no immune-complex disease
Factor D
42
Why are encapsulated bacteria tough to eliminate?
They are not susceptible to phagocytosis
43
What is the result of Ab deficiencies?
increased susceptibility to extracellular pathogens
44
Result of X-Linked Agammaglobulinemia?
Very few B cells develop, patient has no humoral immunity
45
Defect causing X-Linked Agammaglobulinemia
Defect in protein tyrosine kinase involved in B cell development
46
Result of Lambda-5 Deficiency?
B cell deficiency due to lack of pre-B cell receptor
47
What is Lambda-5?
Portion of surrogate light chain that pairs with heavy chain during somatic recombination of B cells
48
What two defects cause X-linked hyper IgM Syndrome?
T cell function due to defective CD40L and AID deficiency
49
What are the lymph nodes of patients with X-linked hyper IgM Syndrome different than a normal patient's?
no germinal center reactions
50
Selective IgG deficiency--with deficiency of IgG2 subtype--results in susceptibility to what?
encapsulated bacteria
51
TAP Transporter Deficiency (aka Bare Lymphocyte Syndrome) results in....which ultimately leads to...
Low levels of MHC I; low CD8 due to low positive selection during thymic development
52
Defect in CD8 alpha chain results in:
lack of CD8
53
Low/No CTL activity, normal CD8, inability of CTL to induce apoptosis. What is defective?
Perforin
54
Defects in what causes SCID?
CD4/(8 T Cell) ** mostly CD4 bc w/o these, no B cells active
55
Defective cytoskeleton reorganization, resulting in a lack of cytokine delivery to B cells and macrophages
Wiskott-Aldrich Syndrome (cross-talk deficiency) Defective T cells --> no active B cells = SCID
56
Toxic nucleotide metabolites accumulate and kill developing B/T cells
Adenosine Deaminase or Purine Nucleotide Phosphorylase Deficiency
57
Result of Jak3 Deficiency:
impaired cytokine signaling, resulting in failed T cell proliferation--no effector T cells
58
Caused by partially active RAG enzymes:
Omenn Syndrome (disorder characterized by no B cells and low numbers of oligoclonal auto-reactive T cells)
59
DiGeorge Syndrome
absent or underdeveloped thymus, resulting in few/no T cells
60
ZAP-70 Deficiency
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
Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy
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
What's the disease? | Deficiency in FoxP3 expression in Treg cells
IPEX (results in nonfunctional Treg cells)
63
ALPS
Result of failure of immune cells to undergo apoptosis following an immune response (due to Fas, FasL or caspase 10 mutation)
64
ALPS has what effect on secondary lymphoid tissue
causes overpopulation due to lack of apoptosis
65
Indicative of Good's Syndrome (3):
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
Myelokathexis
neutrophil retention in the bone marrow
67
Short stature/arms/legs, sparse hair, anemia, and immune problems
Cartilage Hair Hypoplasia
68
What's the disease? | Genetic defect in a cluster of proteins responsible for DNA repair, results in bone marrow failure
Fanconi's Anemia
69
Disorder characterized by albinism and immunodeficiency, with mutations involving vesicular transport (thus affecting granule/cytokine delivery by NK and T cells)
Griscelli Syndrome
70
What are the 2 clinical interventions for asplenia?
1. Vaccination for encapsulated organisms | 2. Prophylactic abx prior to dental procedures and at the 1st signs of respiratory infection or fever
71
What are the 3 most common types of neutropenia?
1. severe congential 2. cyclic 3. benign chronic
72
What do NKT cells recognize?
CD 1 (NOT MHC-Ag complex)`
73
What disorder causes a lack of immune response to the binding of PAMPs to Toll-like receptor on the surface of phagocytes?
NEMO deficiency
74
What is the treatment for NEMO?
- biweekly injections of gamma globulin from healthy donor | - Bone marrow transplant
75
SCID (severe combined immune deficiency) is associated with defective:
T cells (CD4 and CD8) and B cells
76
Asplenic patients are especially susceptible to this condition:
Sepsis (no macrophage mediated blood filtering)
77
What is NFkB?
Transcription factor involved in the expression of cytokines/chemokines, which occurs after a Toll-like receptor recognizes a pathogen
78
What would be the immuno result of Toll-like receptor deficiency?
The patient would have a reduced ability to recognize bacterial and viral pathogens

CMD Block 2 (38 decks)

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