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M&I: Transplantation and Disorders of the Immune System > Immunodeficiencies > Flashcards

Immunodeficiencies Flashcards

1
Q

What are immunodeficiencies caused by?

A

Defects in one or more components of the immune system

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2
Q

What are the types of immunodeficiencies?

A

Primary (congenital)

Secondary

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3
Q

What do primary immunodeficiencies result from?

A

Genetic or developmental defects

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4
Q

When do primary immunodeficiencies originate and present?

A

There from birth but may not be clinically observed till later in life

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5
Q

What do secondary immunodeficiencies originate as a result of?

A

Malnutrition, cancer, drug treatment or infection

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6
Q

What’s the most common secondary immunodeficiency?

A

AIDS

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7
Q

What are clinical features of primary immunodeficiencies?

A

Recurrent infections

Severe infections by unusual pathogens in unusual sites

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8
Q

What are the causes of primary immunodeficiencies?

A

Defect in phagocytic or complement function

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9
Q

What do consequences of primary immunodeficiency depend on?

A

The number and type of immune system components involved

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10
Q

What do defects in earlier stem cells affect?

A

The entire immune system

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11
Q

What do defects in later stage haematopoietic cells show?

A

A more restricted pathology

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12
Q

What are examples of phagocytic disease?

A

Chronic granulomatous disease
Congenital agranulocytosis
Leukocyte-adhesion deficiency

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13
Q

What are examples of B cell and antibody diseases?

A

X-linked agammaglobulinaemia
Common variable hypogammaglobulinaemia
X-linked hyper-IgM syndrome
Selective immunoglobulin deficiency c

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14
Q

What is an example of a thymic epithelial cell mediated disease?

A

Digeorge syndrome

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15
Q

What are examples of combined B and T cell diseases?

A

Reticular dysgenesis
Severe combined immunodeficiency
Bare-lymphocyte syndrome
Wiskott-Aldrich syndrome

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16
Q

What is affected in primary component disorders?

A

Defects in lymphocyte development or activation

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17
Q

What causes X-linked agammaglobulinaemia?

A

Encodes brutons tyrosine kinase

Block in B cell development at pre-b stage

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18
Q

What are the clinical features of x-linked agammaglobulinaemia?

A

Absence of B cells and low/absent plasma cells
All IgGs absent/very low
T cells and T cell mediated response normal

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19
Q

How is x-linked agammaglobulinaemia treated?

A

IVIg at 2-3 week intervals
Or subcutaneous Ig weekly
Prompt antibiotic therapy

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20
Q

What is common variable immunodeficiency?

A

Selective IgA deficiencies

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21
Q

What are the symptoms of common variable immunodeficiency?

A

Mainly asymptomatic- some lead to respiratory, urogenital or GI infections

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22
Q

What are the lab findings with common variable immunodeficiency?

A

Low serum and secretory IgA

23
Q

What are the causes of Severe combined immunodeficiency?

A

Defect in common cytokine receptor gamma chain

24
Q

What is IL-7 needed for?

A

Survival of T cell precursors

25
What happens if you have defective IL-7?
Defective T cell development and concomitant lack in B cell help
26
What does a defect in RAG1/RAG2 lead to?
No T or B cells
27
What happens in adenosine Deaminase deficiency?
Accumulation of deoxyadenosine and deoxy-ATP which is toxic for rapidly dividing thymocytes
28
What are the lab signs of severe combined immunodeficiency?
Very low/absent T cell Normal/absent B cell Sometimes absent NK Low Ig
29
What are the treatments for severe combined immunodeficiency?
``` No live vaccines IVIg replacement Infection prophylaxis Bone marrow/haematopoietic stem cell transplant Gene therapy ```
30
What are the survival rates for severe combined immunodeficiency?
High if early diagnosis and a good donor match with no infections pre-transplant Low if late diagnosis and poor donor match with chronic infections
31
What is the treatment of di george syndrome?
Thymus transplantation
32
What does digeorge syndrome result in?
Failure of development of 3rd and 4th pharyngeal pouches
33
What are the symptoms of digeorge?
Dysmorphic face Hypocalcaemia Cardiac abnormalities Variable immunodeficiency
34
What are the dysmorphic features of digeorge?
Cleft palate, low set ears, fish shaped mouth
35
What causes Wiskott-Aldrich syndrome?
Defect in WASP
36
What is WASP?
Protein involved in actin polymerisation
37
What does Wiskott-Aldrich syndrome cause?
Thrombocytopenia, eczema, infections | Progressive immunodeficiency
38
What are the two types of phagocyte defects?
Quantitative | Qualitative
39
What do quantitative phagocyte defects cause?
Low phagocyte numbers
40
What do qualitative phagocyte defects cause?
Altered function
41
What are some types of recruitment defects?
Transmigration defects
42
What are the types of innate immune system defects?
Phagocyte defects Recruitment defects Complement defects
43
What are some examples of innate immune system defects?
Chronic granulomatous disease Chediak higashi syndrome Leukocyte adhesion deficiency
44
What does chronic granulomatous disease cause?
Formation of granulomas
45
What causes chronic granulomatous disease?
Defective oxidative killing of phagocytosed microbes due to a mutation in phagocyte oxidase components
46
How do you diagnose chronic granulomatous disease?
Nitro blue tetrazolium reduction test
47
What causes Chediak higashi syndrome?
Defect in LYST gene
48
What are the lab signs of Chediak higashi syndrome?
Decreased number of neutrophils
49
What are the symptoms of Chediak higashi syndrome?
Repetitive severe infections
50
What are the mechanisms of leukocyte adhesion deficiency?
Defect in beta2-chain integrins Defect in sialyl-Lewis X Delayed umbilical cord separation -> diagnosis defect in beta2-chain integrins
51
How does leukocyte adhesion deficiency present?
Skin, GIT infections and perianal ulcers
52
What are the lab features of leukocyte adhesion deficiency?
Low neutrophil chemotaxis | Low integrin expression on phagocytes
53
What are the treatment aims of primary immunodeficiencies?
``` Minimise/control infection Prompt infection treatment Prevention of infection Nutrition Replace defective/absent component of the immune system ```

M&I: Transplantation and Disorders of the Immune System (4 decks)

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