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APO506 - MICROBIOLOGY & IMMUNOLOGY > WEEK 4: PRIMARY IMMUNODEFICIENCIES > Flashcards

WEEK 4: PRIMARY IMMUNODEFICIENCIES Flashcards

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Biology 101 flashcards
1
Q

What is a primary immunodeficiency?

A

people born with an immune system that does not work correctly, intrinsic, sometimes inherited defects of the immune system

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2
Q

What is a secondary immunodeficiency?

A

an immune system that doesn’t work but is acquired through life, eg lifestyle

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3
Q

How many unique PIDs have been identified?

A

over 250

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4
Q

Why are PIDs predominantly found in males?

A

More immune related genes on the x chromosome, males have 2 x. Females Y chromosome could mask it.

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5
Q

How many respiratory tract infections are a sign of PID?

A

> 8 in a child and >4 in an adult in one year.

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6
Q

What are some signs of a PID?

A
  • recurrent respiratory tract infections
  • > 1 infection requiring hospital admission
  • IV antibiotic treatment
  • opportunistic microbial infections that are uncommon
  • infections at unusual sites
  • chronic infection that is unresponsive to usual treatmen
  • family history
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6
Q

are PID genes homogenous or heterogenous?

A

heterogenous

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7
Q

How are PIDs diagnosed? give 3 examples

A
  • Genetic testing & sequencing (WGS vs exome)​, family history​
  • Patient history: ​exposure to HIV, drugs, ionising radiation
  • Assess immunoglobulin production​
  • Assess complement production​
  • Assess neutrophil/phagocyte function​
  • Assess cell-mediated immune function
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8
Q

What does SCID stand for?

A

severe combined immuno deficiency

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9
Q

Are PIDS genetic, inherited, or caused by infection?

A

All are genetic, some are inherited. None caused by infection.

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10
Q

What is the most common SCID?

A

(X-SCID) - x linked which means there’s a defect in the gamma chain

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11
Q

What is SCID?

A

immunodeficiency affecting lymphocyte production.

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12
Q

What gender does X-SCID occur in?

A

exclusively in males

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13
Q

How common is X-SCID?

A

Affects 1 in 100,000 new-borns.

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14
Q

What cells are affected by SCID?

A

T cells and B cells.

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15
Q

When is SCID usually diagnosed?

A

Symptoms usually obvious before 3 months​​

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16
Q

What is SCID caused by?

A

mutation occurring in the x chromosome - 13.1 locus

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17
Q

What does an xq13.1 mutation in the locus cause?

A

the interleukin 2 receptor gene is mutated. It is essential in T cell development.

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18
Q

What does the IL2RG (interleukin 2 receptor gene) encode for?

A

a protein called the common gamma (Y) chain

19
Q

What is the common gamma chain essential for?

A

the maturation and functioning of all lymphocytes. Without it the lymphocytes do not mature.

20
Q

What other IL receptors is the gamma chain protein a critical signalling component for?

A

IL2R, IL4R, IL7R & IL21R​

​

21
Q

What is the treatment for SCID?

A

HSCT (haematopoietic stem cell transplantation)

22
Q

What is required for an unmatched HSCT donor to work?

A

mature T cell depletion. T cells can attack the recipient.

23
Q

How successful is HSCT?

A

> 80%. Even higher for SCID patients that had HSCT < 3 months old

24
Q

What is gene therapy?

A

a technique that modifies a person’s genes to treat or cure disease

25
Q

How does gene therapy work?

A

take patient stem cells and transect them with a vector that will put the correct version of the gene in their genetic code. Retroviral vectors are used.

26
Q

what syndrome is caused by failure of expression of HLA molecules?

A

Bare lymphocyte syndrome

27
Q

What is CD40 ligand deficiency?

A

It is a severe primary immunodeficiency caused by mutations in the CD40L gene

28
Q

What is CD40 ligand deficiency caused by?

A

Mutations in the CD40 ligand gene. T cell disorder is a mutation in the ligand whereas a B cell disorder is a mutation in the receptor

29
Q

What does CD40 ligand do?

A

this ligand is found on T cells and binds to the CD40 receptor on B cells.

30
Q

Why is CD40L important for B and T cells?

A
  • both B and T cells activate by the engagement of the ligand with the receptor
  • ## it is critical in B cell proliferation and immunoglobin isotype switching
31
Q

What is CD40L deficiency also known as?

A

Hyper IgM syndrome

32
Q

How is CD40L deficiency detected?

A

increased level of serum IgM and significantly decreased level of IgA, IgG and IgE

33
Q

How is Hyper IgM syndrome treated?

A

immunoglobin replacement therapy, HSCT, antibiotics

34
Q

What is meant by leaky SCID?

A

Genetic mutation leads to partial enzymatic activity, partial development of the immune system. Limited amount of T and B cells.

35
Q

What is a sign of primary antibody deficiency?

A

Recurrent bacterial infections of the respiratory and GI tract

36
Q

What is the most common antibody deficiency?

A

Selective IgA deficiency. Most people have no symptoms

37
Q

What deficiency is caused by low levels of IgG?

A

common variable immune deficiency (CVID)

38
Q

What does WAS stand for?

A

Wiskott-Aldrich Syndrome

39
Q

What gene defect causes WAS?

A

the WASP protein

40
Q

Why is WASP important?

A

the WASP protein is important in actin cytoskeleton in T cell function

41
Q

What does an absence or defect of the WASP protein cause? Name 3

A
  • T cells ability to control its own cytoskeleton is lost, lack of movement
  • No signalling due to lack of actin
  • NO phagocytosis
  • NK cells are unable to put perforin in target cell
42
Q

What are some features of WAS? name 3

A
  1. Increased tendency to bleed - reduced and small platelets
  2. Recurrent infections
  3. Eczema
  4. Leukymia
43
Q

What are some features of WAS? name 3

A
  1. Increased tendency to bleed - reduced amount and small platelets
  2. Recurrent infections
  3. Eczema
  4. Leukaemia
44
Q

Can a patient of WAS receive a live vaccine?

A

No

45
Q

What are the 3 pathways that the complement is activated?

A

alternative pathway, classical pathway, lectin pathway

APO506 - MICROBIOLOGY & IMMUNOLOGY (10 decks)

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