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I&I WC2 > Immunological engineering > Flashcards

Immunological engineering Flashcards

(43 cards)

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1
Q

What are the antibody characteristics of CVID?

A

Low IgG, low IgA and/or low IgM

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2
Q

What are the antibody characteristics of a IgG subclass deficiency?

A

Normal total IgG, low subclass of IgG1-4

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3
Q

What are the antibody characteristics of selective antibody deficiency with normal immunoglobulin?

A

Normal total IgG + normal subclasses, disturbed response to immunization with T-cell independent polysaccharide antigens

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4
Q

What are current treatment options for antibody deficiencies? (4)

A
  1. Antibiotic treatment upon infection or phopylactic
  2. Immunoglobulin replacement therapy IVIG/SCIg
  3. Immunomodulatory treatment (when paired with auto-immunological symptoms)
  4. HSCT (in case of SCID)
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5
Q

How many % of PID patients have a primary antibody deficiency?

A

66%

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6
Q

Which type of primary immunodeficiency is most common?

A

Antibody deficiencies

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7
Q

What is the advantage of monogenic primary immunodeficiencies?

A

Could allow for targeting of affected gene/protein with small molecule inhibitors

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8
Q

Most primary immunodeficiencies are [monogenetic/polygenetic]

A

Polygenetic

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9
Q

What are reasons for genetic testing in patients with antibody deficiencies? (4)

A
  1. Counselling
  2. Better understanding of disease & mechanisms
  3. Prediction of prognosis & complications
  4. Could offer therapeutic options
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10
Q

Which strategies are available for genetic testing? (3)

A
  1. Single gene Sanger sequencing
  2. Gene panel analysis by Sanger/NGS
  3. Whole exome sequencing (WES)/whole genome sequencing (WGS) by NGS
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11
Q

What is the advantage of single gene Sanger sequencing for genetic testing?

A

Highly accurate

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12
Q

What are the disadvantages of single gene Sanger sequencing for genetic testing? (3)

A
  1. Expensive
  2. Laborious
  3. Time-consuming
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13
Q

Which kind of mutations can be detected with single gene Sanger sequencing? (3)

A
  1. Point mutations
  2. Intronic mutations
  3. Some deletions/duplications
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14
Q

In which instances is single gene Sanger sequencing for genetic testing especially useful?

A

When there is one suspected causative gene -> can be sequenced with high accuracy

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15
Q

Which method of genetic testing is most commonly used in patients with primary antibody deficiencies?

A

Gene panel analysis

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16
Q

How does gene panel analysis work?

A

Screens for well-characterized clinical syndromes & phenotypes that have a high likelihood of belonging to a subset of genetic mutations

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17
Q

What is the downside of gene panel analysis?

A

Only focusses on a list of included, well-known genes -> will not find novel mutations

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18
Q

How many % of the human genome is screened by whole exome sequencing?

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A

~1% (only exons of protein-coding genes)

19
Q

What is the advantage of WES/WGS over gene panels?

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A

They are able to detect novel mutations

20
Q

How is WES/NGS usually performed?

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A

Trio analysis -> parents + child screened

21
Q

Which gene elements are also included in WGS (in addition to WES)? (4)

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A
  1. Intronic mutations
  2. Splice site mutations
  3. Regulatory element mutations
  4. Non-exonic mutations
22
Q

What is APDS?

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A

Activated PI3Kδ syndrome

23
Q

What is the function of PI3Kδ?

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A

Involved in the mTOR pathway -> important for B- and T-cell activation

24
Q

In which processes is PI3Kδ involved? (2)

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A
  1. Downstream signalling of the BCR
  2. T- and B-cell development (survival signals)
25
What is the prevalence of APDS?
1-2/million
26
What causes APDS?
Mutations encoding the subunits of the PI3Kδ complex
27
What is the result PI3Kδ mutations in APDS?
Continuous activity of PI3Kδ, leading to increased numbers of immature & senescent B-cells and T-cells (and a decreased number of healthy cells)
28
What are the clinical features of APDS? (4)
1. Low levels of antibodies 2. Recurrent infections 3. Auto-immune disease 4. Increased risk of lymphoproliferation & haematological malignancies
29
What are pathogens frequently seen as infections in APDS patients? (7)
1. Encasulated bacteria 2. CMV 3. EBV 4. VZV 5. HPV 6. Adenovirus 7. Molluscum contagiosum
30
Which infectious diseases are frequently seen in APDS patients? (5) Which is most common?
1. Pneumonia = most common 2. Consolidations of the lung 3. Bronchiectasis 4. Interstitial lung disease 5. Gastrointestinal infections
31
Which forms of systemic auto-immune disease are frequently seen in APDS patients? (4)
1. Haemolytic anaemia 2. ITP 3. Neutropenia 4. Evans syndrome
32
Which forms of local auto-immune disease are frequently seen in APDS patients? (2)
1. Gastro-intestinal 2. Liver disease
33
Which forms of non-malignant lymphoproliferative diseases are frequently seen in APDS? (3)
1. Lymphadenopathy 2. Hepatosplenomegaly 3. Nodular lymphoid hyperplasia of airway & GI-mucosa
34
Which forms of malignant haematological diseases are frequently seen in APDS? (4)
1. Diffuse large-cell B-cell lymphoma (DLBCL) 2. Hodgkin's lymphoma 3. Marginal zone B-cell lymphoma 4. MALToma
35
How can APDS be pharmacologically targeted?
Inhibiting the PI3Kδ complex
36
Which drug is available for APDS?
Leniolisib
37
What is the risk of PI3Kδ inhibition?
Decreased capacity of immune activation
38
What is the effect of ideal dosing of leniolisib?
Activity of the PI3Kδ inhibited in such a way that it is decreased to physiological levels
39
What are the effects of leniolisib (compared to placebo) in APDS? (5)
1. Changes in B-cell subsets: more naïve B-cells, less transitional B-cells, decrease in plasmablasts 2. Decrease in serum IgM 3. Decrease in senescent cells as part of total T-cells 4. Decrease in lymphadenopathy 5. Increased patient-well being
40
What is reduced lymphadenopathy of ADPS patients receiving leniolisib correlated with?
Decrease in haematological malignancy
41
True or false: leniolisib has side effects on the gastro-intestinal tract
False; leniolisib has very little side effects (if properly dosed)
42
What are the long-term effects of leniolisib use in APDS patients? (6)
1. Mild increase in health-related quality of life over time 2. 37% decrease in immunoglobulin replacement therapy over time, with some patients fully IRT-independent 3. Decreased infection rate 4. Long-term reduction of lymphadenopathy 5. Long-term reduction of serum IgM & increase of IgG 6. Restoration of B- and T-cell subsets to physiological levels
43
What is the downside of small molecule treatment of rare genetic diseases?
Treatments often very expensive + needs to be chronically administered

I&I WC2 (25 decks)

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