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Haematology > Immunology - Primary Immunodeficiency > Flashcards

Immunology - Primary Immunodeficiency Flashcards

1
Q

What are the types of primary immunodeficiency?

A 
Antibody disorders
T cell disorders
Phagocyte disorders
Complement deficiencies
Autoimmune and immune dysregulation syndromes
Auto-inflammatory syndromes
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2
Q

What is a primary immunodeficiency?

A

Chronic disorders in which part of the body’s immune system is missing or functions improperly
Caused by single genetic defects

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3
Q

What are secondary immunodeficiencies?

A

Acquired diseases affecting the immune system and/or treatments negatively influencing the immune system
Caused by environmental/iatrogenic insults
Components of the immune system itself are all present and functional

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4
Q

Environmental secondary immunodeficiencies

A

Malnutrition
Trauma
Burns

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5
Q

Disease secondary immunodeficiencies

A 
Infection
Diabetes
Renal failure
Asplenia
Malignancies
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6
Q

Iatrogenic secondary immunodeficiencies

A

Surgery
Splenectomy
Drug

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7
Q

Drugs secondary immunodeficiencies

A

Immunosuppressives
Antirheumatics
Antiepileptics

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8
Q

How are the causes of antibody deficiencies in primary immunodeficiency characterised?

A

By a deficiency of one of more (sub)classes of antibodies due to defective B-cell function
Absence of mature B cells

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9
Q

How are cellular immunodeficiencies characterised in primary immunodeficiency?

A

Impaired T-cell function or the absence of normal T-cells

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10
Q

Causes of innate immune disorders

A

Defects in phagocyte function
Complement deficiencies
Absence or polymorphisms in Pathogen Recognition Receptors

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11
Q

Recognition of primary immunodeficiencies

A 
Severe
Persistant
Unusual (uncommon organism)
Recurrent
Familial
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12
Q

Presentation of primary immunodeficiency

A

Infection
Auto-inflammation
Invasive fungal infections

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13
Q

What are some neutrophil defects?

A

Congenital neutropenia
Leucocyte adhesion defect
Deficiencies of PRR
Chronic granulomatous disease

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14
Q

What is congenital neutropenia?

A

Absence of neutropenia

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15
Q

PRR

A

Pattern recognition receptor

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16
Q

22q11 deletion syndrome symptoms

A 
Cardiac abnormality
Abnormal facies
Thymic aplasia
Cleft palate
Hypocalcemia/hypoparathyroidism
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17
Q

What are the possible abnormalities that result in primary immunodeficiency?

A

Components of the innate immune system
Stages of lymphatic development
Responses of mature lymphocytes to antigenic stimulation

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18
Q

What is repeated infection with encapsulated bacteria a sign of?

A

Defective antibody production

19
Q

What does antibody deficiency (IgG and IgA) lead to?

A

Recurrent respiratory infection by pneumococcus or Haemophilus spp.

20
Q

What are infections with staphylococci, gram-negative bacteria, and fungi are associated with?

A

Reduced number or function of phagocytes

21
Q

Which infections are people with defects in T cells or macrophages predisposed to?

A

Intracellular organisms such as protozoa, viruses, and intracellular bacteria, including mycobacteria

22
Q

What is reactivation of latent herpes virus related to?

A

T cell immunodeficiency

23
Q

What are the overall causes of primary immunodeficiency?

A

Mutationns
Polymorphisms
Polygenic disorders

24
Q

SCID

A

Severe combined immunodeficiency

25
Q

How is SCID treated?

A

Stem cell transplantation in the newborn - must be done very soon after birth

26
Q

MBL

A

Mannan-binding lectin

27
Q

What is mannan-binding lectin?

A

A collagen like protein that binds sugars in bacterial cell walls and activates the classic complement pathway
Polymorphisms in MBL and complement affect the risk for infections

28
Q

What are genetic polymorphisms?

A

Alleles of the same gene occurring at a single locus in at least 1% of the population

29
Q

Common polygenic disorders

A

CVID
IgA deficiency
Specific antibody deficiency

30
Q

What do patients with VID have low levels of?

A

Total IgG

Levels of IgA and IgM and numbers of B and T cells are variable.

31
Q

CVID

A

Common variable immunodeficiency

32
Q

What type of recurrent infection does CVID cause?

A

Respiratory tract

33
Q

Clinical presentation of severe combined immunodeficiency

A

Children with SCID have defective T cells and B cells and therefore develop infections in the first few weeks of life
Unusual or recurrent infection
Diarrhoea
Unusual rashes

34
Q

Family history of severe combined immunodeficiency

A

Neonatal death

Consanguinity

35
Q

Lymphocyte count of severe combined immunodeficiency

A

Very low

36
Q

Clinical presentation of antibody deficiency

A

Presents later in life
Babies are born with maternal immunoglobulin transferred across the placenta
Some forms of antibody deficiency, such as CVID, do not present until adulthood
Chronic or recurrent bacterial respiratory infection

37
Q

Aim of treatment of primary immunodeficiency

A

To prevent infection

38
Q

Treatment in mild immunodeficiency

A

Prophylactic antibiotics

39
Q

Treatment of more severe antibody deficiency

A

Ig replacement therapy

40
Q

Treatment of primary immunodeficiency

A 
Stem cell treatment (definitive treatment)
Avoid live vaccines
Prophylaxis against opportunistic infection
Gene therapy (if SCT is not an option)
41
Q

What is gene therapy?

A

Use of recombinant technology to correct the genetic defect in the patient’s own stem cells, which can then reconstitute the immune system

42
Q

SPUR

A

Serious, persistant, unusual or recurrent infections - indicates immunodeficiency

43
Q

What is the most common presentation of antibody deficiency?

A

Recurrent RTI

44
Q

What is the most common presentation of patients with defects in cellular immunity?

A

Invasive and disseminated viral, fungal and opportunistic bacterial infections involving any organ

Haematology (18 decks)

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