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CSP 3 > Immune deficiency > Flashcards

Immune deficiency Flashcards

1
Q

Define immunodeficiency

A

State of suboptimal resistance to infectious disease

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2
Q

2 ways in which immunodeficiency can be classified?

A
  • Primary and Secondary

- By which part of the immune system has failed

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3
Q

What are the 2 types of primary immunodeficiency

A

Genetically mutation disease

Idiopathic diseases

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4
Q

Give 3 genetically mediated diseases that is a primary cause of immune deficiency

A
  • Severe combined immune deficiencies
  • X-linked agammaglobulaemia
  • Di George syndrome
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5
Q

Give an infection that is a secondary cause of immune deficiency

A
  • AIDS (sx to HIV)
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6
Q

Which malignancies commonly cause immune deficiencies

A
  • Haematological malignancies such as lymphoma, myeloma, leukemia
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7
Q

What metabolic disease notably is a secondary cause of immunodeficiency

A

Diabetes

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8
Q

What kinds of truama commonly lead to immunodeficiency

A

Burns

Penetrating injuries

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9
Q

What treatments can cause immunodeficiency

A

Glucocorticoids
Immunosuppressive agents
Cytotoxic drugs
Irradiation

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10
Q

Are primary or secondary immunodeficiencies commoner

A

Secondary

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11
Q

Which infections can lead to immunodeficiency via B-lymphocyte and antibody deficiency?

A
  • Bacterial infections with common bacteria (pneumococcus, haemophilus, etc.)
  • Viruses, especially enterovirus
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12
Q

What does agammaglobulinaemia mean

A

No antibodies

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13
Q

What gene is defective leading to agammaglobulaemia

A

Tyrosine kinase gene specific to B lymphocytes

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14
Q

How to patients present with x linked agammaglobulaemia

A

Present when aged 6 months- year with chest infections, sinusitis, otitis media etc.

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15
Q

What happens if x linked agamma globulaemia is left untreated

A
  • Inexorably worse chest infections and develop bronchiectasis and will die in childhood and adulthood
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16
Q

What antibody replacement in indicated in agammaglobulaemia

A

IgG

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17
Q

Which age group and sex get common variable immune deficiency

A

Any age

Either sex

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18
Q

What is the state of B lymphocytes and antibodies in common variable immune deficiency

A

B-lymphocytes may be normal or low

Antibodies are low but almost never absent

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19
Q

Which condition has impared test response to immunisation

A

Common variable immune deficiency

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20
Q

What are some common associations with common variable immune deficiency

A 
Autoimmunity 
Granulomatous disease (lung disease, liver)
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21
Q

How is common variable immune deficieny disease treated

A

Antibody replacement

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22
Q

Which antibody is usually deficient in isolated antibody class deficiencies

A

IgA

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23
Q

Rituximab is an antibody against…. which specifically depletes …..

A
  • CD20

- Depletes B lymphocytes

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24
Q

Name 2 primary causes of T lymphocyte deficiencies

A
  • Di George Syndrome

- Nucleoside phosphorylase and Adenine Deaminase deficiency

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25
Which chromosome is deleted in Di George syndrome
Chromosome 22
26
Which organs are absent in Di George syndrome
Thymus and parathyroids
27
What is the underlying problem in nucleoside phosphorylase and adenine deaminase deficiency
Enzyme specific to T lymphocytes
28
What are the main targets of HIV
CD4+ cells
29
What is the diagnostic test for HIV
Antibodies to HIV, p24 viral antigen, HIV RNA
30
Do glucocorticoids affect B cells or T cells
B
31
Common presentation of neutropenia
Frequently starts as oral soreness, gingivitis, severe pharyngitis Upper and lower resp tract infections Soft tissues infections and abscesses Septicaemia
32
What are the cellular changes in severe combined immuno-deficiency
Only RBC and plaltelets in the cells, all immune cells are absent
33
What is deficient in chronic granulomatous disease
Neutrophils
34
When does chronic granulomatous disease present
In childhood usually before 5 year old
35
How does chronic granulomatous disease
- Pneumonia - Infective arthritis - Osteomyelitis - Abscesses in organ and tissue
36
What test is used to diagnose chronic granulomatous disease
Nitroblue tetrazolium test OR | Dihydrorhoadmine test
37
Treatment for neutrophil function defects (3)
- Antibiotics - Interferons - Bone marrows transplant
38
What is leukocyte adhesion deficiency
Autosomal recessive disease- deficiency of CD18.
39
What is the normal function of CD18
Molecule associated with CD11 to form beta 2 integrin, a neutrophil adhesion molecule. Without CD18/CD11 complex, neutrophils cannot pass through the post capillary venule walls in inflammation
40
How do you test for leukocyte adhesion deficiency
CD11/18 expression can be measured
41
How do you treat leukocyte adhesion deficiency
Abx, bone marrow/ stem cell transplant
42
Presentation of leukocyte adhesion deficiency
- Omphalatis - Pneumonia - Gingivitis - Peritonitis
43
Name some diabetic predispositions to infectious diseases
- UTI - Foot infections - Superficial fungal infections of skin - Disseminated candidiasis - Rhino-pulmonary mucormycosis
44
4 possible mechanisms of how diabetes predisposes a patient to infectious disease
- Neutrophil function impaired - Microcirculation imparired - Body fluids more nutritious for bacteria due to glucose conc
45
Which pathway is involved in angioedema
Bradykinin inflammatory cascade pathway
46
What deficiency leads to angioedema
C1 esterase inhibitor
47
What is type 1 hereditary angioedema
Absence of C1 esterase inhibitor
48
What is type 2 hereditary angioedema
Malfunction of C1 esterase inhibitor
49
What is type 3 hereditary angioedema
Mutation of clotting factor 12 (as this disinhibits bradykinin patheway)
50
How do you treat angioedema if it's hereditary
- Anabolic steroids to increase secretion of C1 esterase inhibitor - Tranexamic acid reduces trigger events in tissues - Icatibant inhibits bradykinin pathway
51
In which blood disease is the spleen progressively infarcted
Sickle cell disease
52
In which malabsorbative disease is hyposplenism common
Coeliac
53
Why may the spleen be removed
- Hereditary spherocytosis - Lymphoma - Hypersplenism - Idiopathic thrombocytopenia - Trauma
54
Treatment of hyposplenism/ absent spleen
- Immunise pt with pneumococacal vaccine and meningococcal vaccine - Prophylactic abx- penicillinV/ macrolide
55
Which disorders can cause defects of teh anatomical innate immune system
- Cystic fibrosis - Bronchiectasis - Urinary outflow obstruction - Defects in cilia - Burns/ wounds - Poor phlebotomy/ catherisation technique - Indwelling lines
56
What is reticular dysgenesis
- Only red cells and platelets in teh blood | - Only lilve a few days without dying
57
What is Hyper IgM
- Inherited defect causing loss of signal from activated CD4 T helper cell to APC - B lymphocytes don't go under class switching etc.
58
What mutation causes hyper IgM syndrome
- Mutation of CD40 on T lymphocyte is the most common cause | - Rarely, lack of CD40
59
What mutation Hyper IgE
- Very high IgE - Eosinophilia - Facial and skeletal abnormalites
60
What is Wiskott- Aldrich syndrome
- X-linked - Defective cytoskeletal protein found in haemopoetic cells - Thrombocytopenia gives bleeding and affects B&T lymphocytes
61
What is Chediak-Higashi syndrome
Mostly affects phagocytes Neutropenia Giant inclusion bodies
62
What is the inheritance of ataxia telangectasia
Autosomal recessive
63
Symptoms of ataxia talangectasia
- Autosomal recessive defect in ATM gene - Ataxia - Telangectasia

CSP 3 (9 decks)

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