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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
Q

What defects of the neutrophils can be defective in the disorders of the innate immunity?

A

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
Q

What parts of complement involves the chemotaxis of phagocytes and sites of inflammation?

A

C3a, C5a

27
Q

What parts of complement involve opsonisation?

A

C3b

C4b

28
Q

What parts of complement involve lysis of micro organisms without cell walls?

A

C5b - C9 complex

29
Q

Pathology of Hereditary angioedema

A

C1-inhibior deficiency (autosomal dominant)

30
Q

Presentation of hereditary angioedema

A

Recurrent episodes of painless, non-pitting, non-pruritic, non erythematous swellings

31
Q

What does hereditary angioedema affect?

A

Subcutaneous tissues
Intestines
Oropharynx

32
Q

Treatment of hereditary angioedema

A

Acute emergency of
- pharyngeal / laryngeal obstruction
- acute abdominal pain
C1 inhibitor infusion OR fresh frozen plasma (FFP)

33
Q

Possible disorders of B cells of the adaptive immunity

A

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
Q

Possible disorders of T cells of the adaptive immunity

A 
Isolated T cell subset deficiencies (CD3, CD4, CD8)
Combined deficiencies (severe combined immunodeficiency - SCID)
Syndromalimmunodeficiencies
35
Q

Gene mutation that can result in PID

A

22q11 deletion syndrome

36
Q

Genetics of 22q11 deletion syndrome

A

Hemizygous deletion

De novo mutation (10% deletion identified in parent)

37
Q

What is the most common microdeletion syndrome?

A

22q11 deletion syndrome

38
Q

Presentation of 22q11 deletion syndrome

A 
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
Q

Anomaly of 22q11 deletion syndrome

A

DiGeorge Anomaly

40
Q

Treatment of 22q11 deletion syndrome

A

Thymus transplantation

41
Q

What results in fungal infection?

A

A problem in the adaptive and innate immunity

42
Q

Pathology of the immune system that results in fungal infection

A 
Adaptive CD4 Deficiency - pnuemocystitis
Innate neutrophil disorders
- aspergillus
Systemic; innate (phagocytic disorders) or mucosal; adaptive (IL-17 response) 
invasive fungal infections
43
Q

What is a presenting symptom of PID?

A

Invasive fungal infections

44
Q

Management of PI

A 
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
Q

What is a secondary immunodeficiencies?

A

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
Q

What are secondary immunodeficiencies caused by?

A 
Environmental 
- malnutrition 
- trauma
- burns
Disease 
- Infection 
- DM
- renal failure
- asplenia 
- leukaemia / lymphoma
Surgery 
Splenectomy 
Drugs
- immunosuppressive
- Antirheumatic 
- Antiepileptic
47
Q

Which type of the immunodeficiencies is more common?

A

Secondary much more common than primary

48
Q

What is Wiskott-Aldrich syndrome?

A

Causes primary immunodeficiency due to a combined B and T cell dysfunction

49
Q

Inheritance of wiskott Aldrich syndrome

A

X linked

50
Q

What mutation causes of wiskott Aldrich syndrome?

A

WASP gene

51
Q

Features of wiskott Aldrich syndrome

A

Recurrent infection (e.g. chest)
Eczema
Thrombocytopenia
Low IgM levels

Haematology and Immunology (18 decks)

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