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Haematology and Immunology > Immunodeficiencies > Flashcards

Immunodeficiencies Flashcards

1
Q

4 main components of the immune defence system

A

B-cells and antibodies (humoral, specific immunity)
T-cells (cellular, specific immunity)
Phagocytes (innate immunity)
Complement system (innate immunity)

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2
Q

Primary immunodeficiencies

A

Group of > 300 rare, chronic disorders in which part of the body’s immune system is missing or functions improperly
Caused by single genetic defects
May affect a single part of the immune system or more components of the immune system

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3
Q

Secondary Immunodeficiencies

A

Components of the immune system itself are all present and functional.
Acquired diseases affecting the immune system and/or treatments negatively influencing the immune system.
Caused by environmental/iatrogenic insults.

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4
Q

Antibody Deficiencies

A

Characterized by a deficiency of one of more (sub)classes of antibodies (e.g. IgG, IgA, IgM, IgG2) due to defective B-cell function. There is an absence of mature B cells

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5
Q

Cellular Immunodeficiencies

A

Characterised by impaired T-cell function or the absence of normal T-cells

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6
Q

Innate Immune Disorders

A

Defects in phagocyte function

Complement deficiencies

Absence or polymorphisms in Pathogen Recognition Receptors

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7
Q

Presentation of antibody deficiencies

A

Recurrent bacterial infection of the upper and lower respiratory tract

S.pneumoniae, H.influenza

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8
Q

Cellular Immunodeficiencies presentation

A

Unusual or opportunistic infections often combined with failure to thrive

Pneumocystic Jirovecii, CMV (pneumonia)

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9
Q

Defects in phagocyte function presentation

A

Pneumonia, osteomyelitis, skin infections, liver abscesses, suppurating lymph nodes.

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10
Q

Features of infection of primary immunodeficiencies

A 
Severe
Persistant
Unusual
Recurrent 
Runs in the family
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11
Q

10 warning signs of primary immune deficiency

A
  1. Four or more new ear infection within 1 year for children, two or more for adults
  2. Two or more serious sinus infections
  3. Two or more bouts of pneumonia
  4. Chronic diarrhoea with weight loss and failure to grow normally
  5. Recurrent viral infections
  6. Persistent thrush or fungal infectiion
  7. Recurrent deep skin or organ abscesses
  8. Need for IV antibiotics to clear infections
  9. Two or more deep seated infection
  10. A family history of primary immune deficiency
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12
Q

Neutrophil Defects

A

Absence of neutrophils - congenital neutropenia

Adhesion - leucocyte adhesion defect

Recognition and phagocytosis - deficiencies of RR

Intracellular killing - chronic granulomatous disease

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13
Q

Complement cascade disorders

A

Bacterial infections will be the consequence

Nisseria meningiditis infection are at increased risk

Severe meningococcal sepsis

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14
Q

Hereditary Angioedema

A

An autosomal dominant disorder characterised by recurrent attacks of painless, non-pitting, non-pruritic, non-erythematous swellings in subcutaneous tissues, intestinal walls, larynx and oropharynx. It results due to deficiency of one of the major control proteins preventing inappropriate activation of the classical complement pathway (C-1 inhibitor)

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15
Q

Management of Hereditary Angioedema

A

Acute emergency management of:
Pharyngeal/laryngeal obstruction
Acute abdominal pain

C1-inhibitor infusion OR fresh frozen plasma
(steroids, antihistamines ineffective)

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16
Q

Pneumocystis infections

A

Adaptive CD4 defeciency

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17
Q

Aspergillus Infection

A

Innate Neutrophil disorders

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18
Q

Candida Infection

A

Systemic - innate disorders

Mucosal - adaptive (IL-17 response)

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19
Q

Cryptococcus infection

A

Adaptive CD4 deficiency

20
Q

Disorders of B-cell 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, IgG1, IgG2, IgG3, IgG4
Absence of functional antibodies (upon immunisations)

21
Q

Disorders of T cell immunity

A 
Isolated T-cell subset deficiencies (CD3, CD4, CD8)
Combined deficiencies (severe combined immunodeficiency)
Syndromal immunodeficiencies
22
Q

22q11 deletion syndrome

A

Hemizygous 22q11.2 deletion

1:4000

23
Q

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
24
Q

Immune system disorders 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
25
Q

Complete DiGeorge Anomaly

A

DiGeorge + thymus aplasia

26
Q

Atypical complete DiGeorge anomaly

A

Oligoclonal T-cells, rash, lymphadenopathy

T-cells can reject transplant

27
Q

Typical complete DiGeorge anomaly

A

Very low T-cell numbers, no rash

May develop into ‘atypical’ phenotype

28
Q

Management of PID

A

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

Antibiotic prophylaxis
Antiviral prophylaxis
Antifungal prophylaxis

29
Q

Chronic Granulomatous Disease

A

Inherited X-linked or autosomal recessive disorder in which gene defects lead to dysfunction or absence of cytochrome b558 enzyme which is involved in the generation of neutrophil and macrophage superoxide and oxygen radicals. Intracellular killing is usually severely impaired. Fatal unless treated aggressively.

30
Q

Leucocyte Adhesion Deficiency

A

Autosomal recessive disorder in which neutrophils fail to express adhesion molecule (CD11.CD18) which is required for neutrophils to adhere to vascular endothelium and thereby exit the blood into tissues. They can still produce normal blood polymorph leucocytosis in response to an infective stimulus. Bone marrow transplantation is useful treatment.

31
Q

Myeloperoxidase Deficiency

A

An autosomal recessive disorder which causes mild impairment of phagocyte oxidative burst. This is mild and frequently asymptomatic.

32
Q

Bacterial infections found in phagocytic disorders

A

Staphylococci, E.coli, salmonella, pseudomonas, serratia, nocardia

Aspergillus fungi

33
Q

Physiological functions of complement

A

1) chemotaxis of phagocytes to sites of inflammation (C3a, C5a) 2) opsonisation (C3b, C4b)
3) lysis of micro-organisms (C5b-9 complex)
4) maintenance of solubility of Ag / Ab (C3b, C4b, C2)

34
Q

Clinical features of C1,4,2,3 deficiencies

A

Immune complex disease

Infection

35
Q

Clinical features of c3 or alternate pathway component deficiencies

A

Recurrent staph infection

Recurrent strep/Haemophilus infection

Recurrent meningococcal infection

36
Q

C5,6,7,8,9 deficiency presentation

A

Recurrent neisserial infection

37
Q

Type 1 hereditary angioedema

A

Decreased level of C1-hibitors

38
Q

Type 2 Hereditary Angioedema

A

Normal levels of C1-inhibitor but the molecule is functionally defective.

39
Q

Working classification of primary defects of adaptive immunity

A

1) Severe Combined Immune Deficiency (SCID)
2) Predominantly antibody deficiencies
3) Predominantly T cell deficiencies
4) Other (usually combined T & B) deficiencies

40
Q

Severe Combined Immune Deficiency

A

Severe dysfunction or defective development of T and B cells. Occur due to defects in pluripotent stem cells, lymphoid stem cells or T & B cells themselves

41
Q

Clinical features of severe combined immune deficiency

A 
1:60,000 live births (conservative estimate)
clues -
usually well for first 3 months of life
persistent superficial candida
diarrhoea and failure to thrive 
chronic bronchiolitis
interstitial pneumonitis
overwhelming bacterial sepsis
42
Q

Treatment of severe combined immune deficiency

A

Intensive supportive therapy with nutritional support, prophylactic and therapeutic antibiotics, anti-fungal and anti-viral therapy as required and immunoglobulin replacement therapy.

Bone marrow transplant

43
Q

IgA deficiency

A

1:700 of population
Recurrent sinus and respiratory tract infections, GI disease, allergic symptoms and autoimmune disease.

due to deletion or mutation of the IgA gene. Sometimes occurs secondary to use of particular drugs such as phenytoin, penicillamine, gold or sulphasalazine.

44
Q

IgG deficiency

A

low levels of all four IgG subclasses have been described. The only important well defined, clinical entity however is an association between IgG2 deficiency and recurrent respiratory tract infections.

45
Q

Specific antibody deficiency

A

a specific, isolated inability to make antibodies against pneumococcal surface polysaccharide. Generally associated with mild infections of middle ear, sinusus and respiratory tract. All other immune effector defences (including other antibodies) are normal.

46
Q

X-linked agammaglobinaemia

A

male infants, symptoms start at age 3-6 months, patients fail to make immunoglobulins of any class because of defective B cell maturation with mature B cells and plasma cells being absent from blood, bone marrow and tissues. Due to mutation of a single gene (Btk) which is essential for B cell maturation. T cell immunity normal. Presents with bacterial infections but these patients are also susceptible to Echovirus infection

47
Q

Common variable Immune deficiency

A

symptom onset at any age but especially 3rd/4th decades. Low IgG & IgA with normal IgM. Infectious complications dominate but non-infectious complications are also common. Numerous genetic defects predispose to development of CVID and as a result the clinical presentations tend to be fairly heterogeneous. 20-30% of cases also have variable T cell deficiencies (and are therefore combined rather than simple antibody deficiencies).

Haematology and Immunology (20 decks)

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