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*Haematology + Immunology > Immunology 2 - Primary Immunodeficiency > Flashcards

Immunology 2 - Primary Immunodeficiency Flashcards

1
Q

What factors make up specific immunity?

A

Antibodies

Cellular immunity

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2
Q

What factors make up non-specific immunity?

A

Complement

Phagocytes

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3
Q

What is the difference between primary and secondary immunodeficiency?

A

Primary - Congenital

Secondary - Acquired

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4
Q

Immunodeficiencies increase the risk of what?

A

Infection
Cancer
Autoimmunity

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5
Q

Primary immunodeficiencies are broadly caused by what?

A

Mostly mutations

Some by autoimmunity

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6
Q

Primary immunodeficiencies predispose patients to what?

A

Infections and tumours

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7
Q

Primary immunodeficiencies are caused by abnormalities in what?

A

Innate immune system
Stages of lymphocyte development
Responses of lymphocytes to antigen stimulation

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8
Q

Agammaglobulinaemias are caused by what?

A

X linked mutation

Autosomal recessive mutation

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9
Q

Agammaglobulinaemias cause what?

A

Decreased serum Ig

Decreased B-cell numbers

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10
Q

Generally, B cell deficiencies present how?

A 
Increased Pyogenic bacteria
Enteric bacteria 
Reduced serum IG
Normal DTH reactions
Absent follicles (germinal centres)
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11
Q

Generally, T cell deficiencies present how?

A 
Pneumocystis jiroveci
Viruses
Atypical fungi
Normal/reduced Ig
Reduced DTH reaction
Normal follicles
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12
Q

Repeated infections with encapsulated bacteria is a sign of what?

A

Defective antibody production

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13
Q

IgG and IgA deficiency presents how?

A

Pneumococcus

Haemophilius spp

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14
Q

Infections with staph, gram -ve, fungi are associated with what?

A

Reduced number/function of phagocytes

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15
Q

Complement defects predispose to what?

A

Neisseria meningitidis meningitis

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16
Q

T-cell defects predispose to what?

A

Infection with intracellular organisms (protozoa, viruses, intracellular bacteria), mycobacterium
Reactivated latent Herpes (Cold sores, shingles)
Recurrent Candida

17
Q

How does the severity T-cell immunodeficiency lead to a variation in Mycobacterium Tuberculosis presentation?

A

Mild - invasion outside lungs

Severe - widespread, low virulence mycobacteria

18
Q

What tumours are associated with low T-cell numbers?

A

(Herpesvirus-induced tumours)
Kaposi sarcoma
non-Hodgkin lymphoma

19
Q

What are the causes of primary immunodeficiencies?

A

Mutations
Polymorphisms
Polygenic disorders

20
Q

What are polygenic disorders?

A

Combined action of >1 gene

(can be) Caused by autoimmunity

21
Q

Polygenic disorders of the immune system typically affect what?

A

Antibodies

22
Q

How is Severe Combined Immunodeficiency treated?

A

Bone marrow transplant

Screening in newborns

23
Q

What mutations are associated with SCID?

A

Some autosomal

Some X-linked

24
Q

What is the function of Mannan-binding lectin?

A

Binds sugars in bacterial cell walls to activate complement

Polymorphismsin MBL increase risk of infections

25
Q

What are the common Polygenic Immunodeficiencies?

A

Common variable immunodeficiency
IgA deficiency
Specific antibody deficiencies

26
Q

How does Common variable immunodeficiency present?

A 
1 in 20,000 young people 
Low total IgG (others variable)
Recurrent resp infections
GI, skin, neuro infections
Autoimmunity 
Family history
27
Q

How does Specific antibody deficiency present?

A

Recurrent pneumococcus or haemophilius infections IN SPITE of normal IgG
Don’t respond to polysaccharide antigens

28
Q

Autoimmune poly­endocrinopathy candidiasis ectodermal dysplasia causes what?

A

Frequent severe Candia infections
Other autoimmunity
Antibodies against IL-17

29
Q

Autoantibodies against interferon y causes what?

A

Recurrent mycobacterial infections

30
Q

How does Severe combined immunodeficiency present?

A 
Defective T and B cells
Recurrent Infection in first few weeks
Diarrhoea
FH neonatal death
Very low lymphocytes
31
Q

How does Antibody Deficiency present?

A

Chronic/recurrent bacterial respiratory infections later in life

32
Q

How is Antibody Deficiency investigated?

A

IgG, A, M
Exclude secondary immunodeficiency
Specific Haemophilius/pneumococcus antibodies
Complement/neutrophil function

33
Q

How are Primary immunodeficiencies treated?

A

Prophylactic antibiotics
Immunoglobulin replacement therapy
Stem cell transplantation
Gene therapy

34
Q

How is SCID treated?

A

Avoid live vaccines
Prophylaxis against Pneumocystis jiroveci
Stem cell transplant

35
Q

What are the requirements for gene therapy?

A

Mutation identified
Correcting mutation must improve condition/survival
Must not cause malignancy

36
Q

Defective HLA genes lead to what?

A

MHC faults (leading to faulty antigen presentation)

37
Q

What conditions are associated with loss of antibodies from the body?

A

Kidney, Liver and Gut disease

*Haematology + Immunology (22 decks)

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