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Haematology and Immunology > Primary Immunodeficiency > Flashcards

Primary Immunodeficiency Flashcards

1
Q

What are the features of immunity?

A

Recognition
interaction
Elimination
Control and regulation

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2
Q

Types of immune defences

A

Innate
Adaptive
Barriers

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3
Q

Cells that make up the innate immune system

A 
Macrophages
Monocytes
Neutrophils 
Mast cells
NK cells 
APCs
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4
Q

What can all cells in the innate immune system do?

A

Phagocytose microbes

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5
Q

Receptors that make up the innate immune system

A 
Fc
Complement 
Mannose 
Toll like
C type letines
Cytokines
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6
Q

Molecules that make up the innate immune system

A

Complement
Acute phase proteins
Chemokines
Cytokines

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7
Q

Cells that make up the adaptive immune system

A

B cells

T cells

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8
Q

Receptors that make up the adaptive immune system

A 
Ig
TCR
HLA
Cytokine
Complement 
Toll-like
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9
Q

Molecules that make up the adaptive immune system

A

Immunoglobulins

Cytokines

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10
Q

Examples of barriers used in the immune system

A

Saliva
Breast milk
Cilia airways

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11
Q

4 main components of immune defence mechanisms

A 
B cells and antibodies 
- humoral 
- specific immunity 
T cells
- cellular 
- specific immunity 
Phagocytes 
- innate immunity 
Complement system 
- innate immunity
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12
Q

What kind of diseases are primary immunodeficiencies?

A

Chronic

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13
Q

What is wrong is primary immunodeficiencies?

A

Part of the immune system is missing or functions improperly

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14
Q

What are primary immunodeficiencies caused by?

A

Single gene defects

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15
Q

Classification of primary immunodeficiencies

A 
Predominately antibody disorders
Predominately T cell disorders
Phagocyte disorders
Other well defined PIDs
Complement deficiencies 
Autoimmune and immune dysregulation syndromes
Auto-inflammatory syndromes
Unclassified PIDs
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16
Q

What is an antibody deficiency?

A

Deficiency of one or more subclasses of antibodies (e.g. IgG, IgA, IgM) due to defective B cell production

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17
Q

What is there an absence of in antibody deficiency?

A

Mature B cells

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18
Q

What is common presentations of antibody deficiencies?

A

Recurrent bacterial infections of the upper and / or lower resp tract - S, pneumonia, H. influenza

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19
Q

What are cellular immunodeficiency caused / characterised by?

A

Impaired T cell function OR

The absence of normal T cells

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20
Q

What are common presentations of cellular immunodeficiencies?

A

Unusual or opportunistic infections often combined with failure to thrive - pneumocystic hirovecci, CMV (pneumonia)

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21
Q

What are innate immune disorders characterised / caused by and their presentations?

A

Defects in phagocyte function
- S aureus (skin lesions, sepsis, abscesses of internal organs)
- Aspergillus infections (lung, bone, brain)
Complement deficiencies
- N. meningitis
Absence or polymorphism in pathogen recognition receptors

22
Q

Be suspicious if you have an infection that is…..

A

Severe - requires hospitalisation or IV antibiotics
Persistent - wont clear up or clears very slowly
Unusual - caused by an uncommon organism
Recurrent - keeps coming back
Runs in the family - others in the family who have similar susceptibility to infection
- X linked M > F

23
Q

10 warning signs of PID in children and adults

A

4 + more ear infection within 1 year for children and > 2 for adult
2 + more serious sinus infections in one year
2 + bouts on pneumonia in 1 year for children and recurrent pneumonia in adults
Chronic diarrhoea with weight loss and failure to grow normally or gain weight in children
Recurrent viral infections
Persistent thrush or fungal infection on the skin or elsewhere
Need for IV antibiotics to clear infection
2 + more deep seated infections
FH of PID

24
Q

What steps of phagocytosis can be defective in disorders of innate immunity?

A

All 3 can be defective

  • recognition defect
  • cannot engulf pathogen
  • cannot release products or kill the pathogen intracellularly
25
What defects of the neutrophils can be defective in the disorders of the innate immunity?
Absence of neutrophils -> Congenital neutropenia - congenital cells in bone marrow cannot produce neutrophils - treated and presented very early on Adhesion -> leucocyte adhesion defect - CD11/18 is missing on the neutrophil and so the neutrophil cannot migrate Recognition and phagocytosis - deficiencies of PRR Intracellular killing - > chronic granulomatous disease - can recognise but not kill the pathogen
26
What parts of complement involves the chemotaxis of phagocytes and sites of inflammation?
C3a, C5a
27
What parts of complement involve opsonisation?
C3b | C4b
28
What parts of complement involve lysis of micro organisms without cell walls?
C5b - C9 complex
29
Pathology of Hereditary angioedema
C1-inhibior deficiency (autosomal dominant)
30
Presentation of hereditary angioedema
Recurrent episodes of painless, non-pitting, non-pruritic, non erythematous swellings
31
What does hereditary angioedema affect?
Subcutaneous tissues Intestines Oropharynx
32
Treatment of hereditary angioedema
Acute emergency of - pharyngeal / laryngeal obstruction - acute abdominal pain C1 inhibitor infusion OR fresh frozen plasma (FFP)
33
Possible disorders of B cells of the adaptive immunity
Absence of mature B cells due to maturation stop in the bone marrow (BTK mutation) Absence of immunoglobulin production Absence of specific immunoglobulins and / or subclasses (IgG, IgA, IgM) Absence of functional antibodies (upon immunisations)
34
Possible disorders of T cells of the adaptive immunity
``` Isolated T cell subset deficiencies (CD3, CD4, CD8) Combined deficiencies (severe combined immunodeficiency - SCID) Syndromalimmunodeficiencies ```
35
Gene mutation that can result in PID
22q11 deletion syndrome
36
Genetics of 22q11 deletion syndrome
Hemizygous deletion | De novo mutation (10% deletion identified in parent)
37
What is the most common microdeletion syndrome?
22q11 deletion syndrome
38
Presentation of 22q11 deletion syndrome
``` Congenital cardiac anomalies Palatal defects (Affecting speech and feed) Characteristic facial features Immunodeficiency - thymus a-/hypo-plasia Hypocalcaemia Developmental disabilities Learning disabilities Behavioural problems Psychiatric illness Structural abnormalities Haematological and AL disorders Short forehead Hooded eyelid with unslanting palpebral fissures Malar flatness Protuberant ears Recurrent RTIs during infancy Autoimmune phenomena - anaemia / thrombocytopenia - JIA - Raynauds - thyroid disease ```
39
Anomaly of 22q11 deletion syndrome
DiGeorge Anomaly
40
Treatment of 22q11 deletion syndrome
Thymus transplantation
41
What results in fungal infection?
A problem in the adaptive and innate immunity
42
Pathology of the immune system that results in fungal infection
``` Adaptive CD4 Deficiency - pnuemocystitis Innate neutrophil disorders - aspergillus Systemic; innate (phagocytic disorders) or mucosal; adaptive (IL-17 response) invasive fungal infections ```
43
What is a presenting symptom of PID?
Invasive fungal infections
44
Management of PI
``` Symptomatic = prevention of infections Treatment of causes - Immunoglobulin substitution - Gene therapy (ADA-SCID) - Stem cell transplant (CGD) - thymus transplant (DiGeorge) Genetic counselling and prenatal diagnosis ```
45
What is a secondary immunodeficiencies?
Components of the immune system are all present and functional but acquired diseases affecting the immune system and / or treatments negatively influencing the immune system
46
What are secondary immunodeficiencies caused by?
``` Environmental - malnutrition - trauma - burns Disease - Infection - DM - renal failure - asplenia - leukaemia / lymphoma Surgery Splenectomy Drugs - immunosuppressive - Antirheumatic - Antiepileptic ```
47
Which type of the immunodeficiencies is more common?
Secondary much more common than primary
48
What is Wiskott-Aldrich syndrome?
Causes primary immunodeficiency due to a combined B and T cell dysfunction
49
Inheritance of wiskott Aldrich syndrome
X linked
50
What mutation causes of wiskott Aldrich syndrome?
WASP gene
51
Features of wiskott Aldrich syndrome
Recurrent infection (e.g. chest) Eczema Thrombocytopenia Low IgM levels

Haematology and Immunology (18 decks)

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