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Systems: Haematology + Immunology > Immunodeficiency > Flashcards

Immunodeficiency Flashcards

1
Q

What are the 4 elements in the process of immunity?

A
  • Recognition
  • Interaction
  • Elimination
  • Control and regulation
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2
Q

What are the contributors to out immune defences?

A
  • Barriers
  • Innate immunity
  • Adaptive immunity
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3
Q

What cells are involved in innate immunity?

A
  • Macrophages
  • Monocytes
  • Neutrophils
  • Mast cells
  • NK cells
  • APCs
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4
Q

What receptors are involved in innate immunity?

A
  • Fc
  • Complement -Mannose
  • Toll-like
  • C-type lectins
  • Cytokine
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5
Q

What molecules are involved in innate immunity?

A
  • Complement
  • Acute phase proteins
  • Chemokines
  • Cytokines
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6
Q

What cells are involved in adaptive immunity?

A
  • B cells

- T cells

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7
Q

What receptors are involved in adaptive immunity?

A
  • Ig
  • TCR
  • HLA
  • Cytokine
  • Complement
  • Toll-like
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8
Q

What molecules are involved in adaptive immunity?

A
  • Immunoglobulins

- Cytokines

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9
Q

What are the 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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10
Q

What are primary immunodeficiencies?

A
  • A group of >300 rare chronic diorders in which part of the body’s immune system is missing or functions improperly
  • Caused by a single gene defect
  • May affect a single part of the immune system or more components
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11
Q

What is the most common subtype of PID in Europe?

A

Antibody disorders

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12
Q

What are secondary immunodeficiencies?

A
  • Components of the immune system are all present and functional but acquired disease affects the immune system and/or treatments negatively influence the immune system
  • Much more common than PID
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13
Q

What causes SID?

A
  • Caused by environmental/iatrogenic insults.

- Most well-known examples are HIV infection and patients treated for malignancies.

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14
Q

Give examples of causes of SID.

A

Environmental

  • Malnutrition
  • Trauma
  • Burns

Disease

  • Infection
  • Diabetes
  • Renal failure
  • Asplenia
  • Malignancy (leukaemia/lymphoma)

Iatrogenic

  • Surgery
  • Splenectomy
  • Drugs (immunosuppressant’s, antiepileptic’s and antirhematics)
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15
Q

What are antibody deficiencies due to?

A
  • Deficiency of 1 or more (sub)classes of antibodies (e.g. IgG, IgM, IgA, IgG2) due to defective B cell function
  • Absence of mature B cells
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16
Q

What are cellular immunodefiencies due to?

A

Impaired T cell function or the absence of normal T cells

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17
Q

What are innate immune disorders due to?

A
  • Defects in phagocyte function
  • Complement deficiencies
  • Absence of polymorphisms in pathogen recognition receptors
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18
Q

What infections are common in antibody deficiencies?

A
  • Recurrent bacterial infections of the upper and/or lower respiratory tract
  • S. pneumoniae, H. influenzae
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19
Q

What infections are common in cellular immunodeficiencies?

A
  • Unusual or opportunistic infections often combined with failure to thrive
  • Pneumocystic jirovecii, CMV (pneumonia)
20
Q

What infections are common in defects of phagocyte function?

A
  • S. aureus (sepsis, skin lesions, abscesses internal organs
  • Aspergillus infections (lung, bones, brain)
21
Q

What infection is common in complement deficiencies?

A

N. menigitidis

22
Q

How can PID be recognised?

A
  • Severe: requires hospitalisation or IV antibiotics
  • Persistent: won’t completely clear up or clears very slowly
  • Unusual: caused by an uncommon organism
  • Recurrent: keeps coming back
  • Runs in the family: others in your family have had similar susceptibility to infection
23
Q

What are the warning signs for PID in children and adults?

A

2 or more= see GP

  • 4 or more (children) or 2 or more (adults) new ear infections in 1 year
  • 2 or more serious sinus infections within 1 year
  • 2 or more bouts of pneumonia in 1 year (children) or recurrent (adults)
  • Chronic diarrhoea with weight loss, and failure to grow normally or weight gain in children
  • Recurrent viral infections
  • Persistent thrush or fungal infection
  • Recurrent deep skin or organ abscesses
  • Need for IV antibiotics to clear infections
  • 2 or more deep-seated infections
  • Family history
24
Q

What is the key role of innate immunity?

A

Phagocytosis

25
Q

What neutrophil defects may occur?

A
  • Absence of neutrophils > congenital neutropenia
  • Adhesion > leucocyte adhesion defect
  • Recognition and Phagocytosis > deficiencies of PRR
  • Intracellular Killing > chronic granulomatous disease
26
Q

What integrin complex is required for neutrophil adhesion?

A

CD11/CD18

27
Q

What is necessary for neutrophil intracellular killing to take place?

A

NADPH-oxidase complex

28
Q

What are the key components of the complement cascade?

A
  • Chemotaxis of phagocytes to sites of inflammation (C3a, C5a)
  • Opsonisation (C3b, C4b)
  • Lysis of micro-organisms without cell wall (C5b-C9 complex)
29
Q

What is hereditary angioedema caused by?

A

Autosomal dominant C1-inhibitor deficiency

30
Q

What is hereditary angioedema characterised by?

A
  • Recurrent episodes of painless, non-pitting, non-pruritic, nonerythematous swellings
  • Can affect the subcutaneous tissues, intestines, oropharynx
31
Q

How is hereditary angioedema treated?

A
  • Acute emergency management of pharyngeal/laryngeal obstruction and acute abdominal pain
  • C1-inhibitor infusion OR FFP
32
Q

Give examples of disorders in B-cells.

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
  • Absence of functional antibodies (upon immunisations)
33
Q

Give examples of disorders of T cells

A
  • Isolated T-cell subset deficiencies (CD3, CD4, CD8)
  • Combined deficiencies (severe combined immunodeficiency)
  • Syndromal immunodeficiencies
34
Q

What is the genetics of 22q11 deletion syndrome

A
  • Hemizygous 22q11.2 deletion
  • Most common microdeletion syndrome
  • De novo mutations (10% deletion identified in a parent)
  • Highly variable expression
35
Q

What is the epidemiology of 22q11 deletion syndrome?

A
  • 1:4000 (Down syndrome 1:1200)
  • UK/Ireland: 10,000-15,000 affected
  • 2nd most common cause of developmental delay and major congenital heart disease (after DS)
36
Q

What is the clinical presentation of 22q11 deletion syndrome?

A

Congenital cardiac anomalies

  • Palatal defects (affecting feeding and speech)
  • Characteristic facial features
  • Immunodeficiency –Thymus a-/hypo-plasia
  • Hypocalcaemia
  • Developmental disabilities
  • Learning disabilities
  • Behavioral problems
  • Psychiatric illness
  • Structural abnormalities (renal, eye, dental, skeletal, brain, GI-tract)
  • Haematological & AI disorders
37
Q

What are facial characteristics of 22q11 deletion syndrome?

A
  • Short forehead
  • Hooded eyelids with upslanting palpebral fissures
  • Malar flatness
  • Bulbous nasal tip with hypoplastic alea nasi
  • Protuberant ear
38
Q

What immune system disorders are associate with 22q11 deletion syndrome?

A

Recurrent RTI’s during infancy

  • Low T-cell numbers (+ qualitative defects)
  • Low IgA and IgM
  • Reduced antibody responses
Autoimmune phenomena (30%) 
-Anaemia/thrombocytopenia
-Juvenile chronic arthritis (JIA; low IgA) 
Raynaud’s 
-Thyroid disease
39
Q

What are the subtypes of 22q11 deletion syndrome?

A

Complete DiGeorge anomaly

  • = DiGeorge + thymus aplasia
  • Fatal < age of 2 years

Atypical complete DiGeorge anomaly

  • Oligoclonal T-cells, rash, lymphadenopathy
  • T-cells can reject transplant

Typical complete DiGeorge anomaly

  • Very low T-cell numbers, no rash
  • May develop into ‘atypical’ phenotype
40
Q

What immunodeficiency is pneumocystis spp. associated with?

A

Adaptive CD4 deficiency

41
Q

What immunodeficiency is aspergillus spp. associated with?

A

Innate neutrophil disorders

42
Q

What immunodeficiency is candida spp. associated with?

A
  • Systemic: innate phagocytic disorders

- Mucosal: adaptive IL-17 response

43
Q

What immunodeficiency is Cryptococcus spp. associated with?

A

Adaptive CD4 deficiency

44
Q

Who are invasive fungal infections seen in?

A
  • Presenting symptom of PID
  • In children with neutropenia due to leukaemia and/or chemotherapy
  • Invasive candidiasis in premature neonates due to immature (but physiological) immune system
  • In children admitted to PICU and treated with broadspectrum antibiotics and/or abdominal surgery
45
Q

How is PID managed?

A

Symptomatic treatment= prevention of infections

Causative

  • Immunoglobulin substitution
  • Gene therapy (ADA-SCID)
  • Stem cell transplant (CGD)
  • Thymus transplant (diGeorge)

Genetic counselling and prenatal diagnosis

Systems: Haematology + Immunology (19 decks)

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