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Immunology - Immunodeficiencies Flashcards

1
Q

What is the defect in X-linked agammsglobulinaemia?

A

Defect in BTK —> absence of B cell maturation

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2
Q

Mode of inheritance for X-linked agammaglobulinaemia

A

X-linked recessive

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3
Q

When do you begin to notice that a child has X-linked agammaglobulinaemia and why?

A

After 6 months (reduced maternal IgG)

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4
Q

What type of infections are individuals with X linked agammabglobulinaemia susceptible to?

A

Recurrent bacterial (extracellular), enteroviral (due to absence of neutralising antibodies)

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5
Q

What is contraindicated in X linked agammaglobulinaemia?

A

Live vaccines

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6
Q

What is the defect in hyper-IgM syndrome?

A

Defective CD40L on T cells —> class switching defect

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7
Q

Mode of inheritance for hyperIgM syndrome

A

X linked recessive

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8
Q

What type of infections are individuals with hyperIgM syndrome susceptible to?

A

Progenitor; opportunistic

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9
Q

Name 3 opportunistic infections that may be seen in hyperIgM syndrome.

A

CMV, Pneumocystis, Cryptosporidium

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10
Q

Do those with hyperIgM have germinal centres?

A

No

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11
Q

What happens to the levels of IgA, IgG & IgE in hyperIgM syndrome?

A

Decreases

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12
Q

What is the most common primary immunodeficiency?

A

Selective IgA deficiency

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13
Q

What are the clinical features of selective IgA immunodeficiency? 5As

A 
Majority Asymptomatic
Can see
- Airway (sinus and lung) and GI sx
- AI disease
- Atopy
- Anaphylaxis to IgA containing products (e.g. blood transfusion)
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14
Q

To which infection in particular are individuals with selective IgA immunodeficiency susceptible to?

A

Giardiasis

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15
Q

What is the defect in CVID?

A

Defect in B cell differentiation

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16
Q

What is the age of presentation of CVID?

A

After 2y.o, can be delayed to 30-40s

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17
Q

What are individuals with CVID susceptible to? (2 infections, 1 malignancy, 1 general)

A

Bronchiectasis
Sinopulmonary infections

Lymphoma

AI disease

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18
Q

What happens to levels of plasma cells and Ig in patients with CVID?

A

Decreases

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19
Q

What chromosomal abnormality is found in DiGeorge syndrome?

A

22q11 deletion

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20
Q

What is the aetiology in DiGeorge syndrome?

A

Failed development of 3rd & 4th pharyngeal pouches

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21
Q

What is the presentation of DiGeorge syndrome? (3)

A

Tetany (hypoCa)
Recurrent fungal/viral infections
Conotruncal abnormalities e.g. Tetralolgy of Fallot, truncus arteriosus

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22
Q

What do investigations show in DiGeorge syndrome?

A

Hypocalcaemia
Low PTH
Low T cells
Absent thymic shadow on CXR

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23
Q

Mode of inheritance IL-12 receptor deficiency

A

AR inheritance

24
Q

What happens in IL-12 receptor deficiency?

A

Reduced Th1 response

25
Presentation of IL-12 deficiency
Disseminated mycobacterium & fungal infections | May present after BCG vaccine
26
Lab findings in IL-12 receptor deficiency
Low IFN-gamma
27
Mode of inheritance hyperIgE syndrome
AD inheritance
28
What is the defect in hyperIgE syndrome?
STAT3 mutation —> deficiency Th17 cells —> impaired recruitment of neutrophils to site of infection Th1 cannot produce IFN-gamma
29
Presentation of hyperIgE (Job) syndrome
‘FATED’ - coarse Facies - cold staph Abscesses - retained primary Teeth - raised IgE - Dermatological problems (eczema) Bone #s from minor trauma
30
Why do you find elevated IgE & eosinophils in hyperIgE syndrome?
Th2 > Th1 response
31
What is the defect in chronic mucocutaneous candidiasis?
T cell dysfunction | Can result from congenital defects in IL-17 or IL-17 receptors
32
Presentation of chronic mucocutaneous candidiasis
Noninvasive Candida infections skin & mucous membranes
33
Mode of inheritance SCID
X-linked recessive
34
Defects in SCID (2)
1. Defective IL-2R gamma chain —> reduced T cell activation —> reduced B cell response 2. Adenosine deaminase deficiency Lack of degradation of purines —> toxic for B & T cells
35
Presentation SCID
Failure to thrive Chronic diarrhoea Thrush Recurrent infections (viral, bacterial, fungal, protozoal)
36
Clinical findings of SCID on is
Reduced T cell receptor excision circles (TRECs) Absence of - thymic shadow (on CXR) - germinal centres (LN bx) - T cells (flow cytometry)
37
Defect in ataxia-telangiectasia
Defect ATM gene —> failed detection DNA damage —> accumulation of mutations
38
Mode of inheritance of ataxia telangiectasia
AR inheritance
39
Presentation of ataxia telangiectasia (3)
Triad - Ataxia (cerebellar defects) - spider Angiomas (telangiectasias) - IgA deficiency (sinopulmonary and GI infections)
40
Increased risk of what in ataxia telangiectasia (other than infection)?
Lymphoma & leukaemia
41
What happens to level of AFP in ataxia telangiectasia?
Increased
42
What is the defect in Wiskott-Aldrich syndrome?
Mutation in WASp gene —> leukocytes & platelets unable to recognise actin cytoskeleton —> defective antigen presentation
43
Mode of inheritance Wiskott-Aldrich syndrome
X-linked recessive
44
Presentation of Wiskott-Aldrich syndrome
``` WATER: Wiskott- Aldrich Thrombocytopenia Eczema Recurrent (pyogenic) infections ``` Increased risk AI disease & malignancy
45
Mode of inheritance leukocyte adhesion deficiency
AR inheritance
46
Defect in leukocyte adhesion deficiency (type 1)
Defect in LFA-1 integrity (CD18) on phagocytes —> impaired migration and chemotaxis
47
Presentation of leukocyte adhesion deficiency (type 1)
- recurrent skin and mucosal bacterial infections - absent pus - impaired wound healing - delayed separation of umbilical cord (>30 days)
48
What happens to number of neutrophils in blood?
Increases
49
What is the defect in Chediak-Higashi syndrome?
Defect in lysosomal trafficking regulator gene (LYST) —> microtubule dysfunction in phagosome-lysosomes fusion
50
Mode of inheritance Chediak-Higashi syndrome
AR inheritance
51
Presentation of Chediak-Higashi syndrome
PLAIN - Progressive neurodegenerative - Lymphohistiocytosis - Albinism (partial) - Infection - recurrent pyogenic, by staph & strep - Neuropathy (peripheral)
52
Findings in granulocytes and platelets in Chediak-Higashi
Giant granules
53
What happens to coagulation and FBC in Chediak-Higashi syndrome?
Mild coagulation defects | Pancytopenia
54
What is the defect in chronic granulomatous disease?
Defect of NADPH oxidase —> reduced reactive oxygen species e.g. superoxide & reduced respiratory burst in neutrophils
55
Mode of inheritance chronic granulomatous disease
X-linked
56
Increased susceptibility to what type of organisms in chronic granulomatous disease?
Catalase +ve | SPACE - Staphylococci, PsA, Aspergillus fumigatus, Candida, Enterobacteriaceae - Klebsiella, Serratia
57
Lab investigations for chronic granulomatous disease. (2)
1. Dihdyrohodamine (flow cytometry) - reduced green fluorescence 2. Nitroblue tetrazolium dye reduction test - fails to turn blue

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