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Paediatrics > Primary Immunodeficiency > Flashcards

Primary Immunodeficiency Flashcards

1
Q

When should you suspect primary immunodeficiency?

A

Infections that are

  • Serious
  • Persistent
  • Unusual
  • Recurrent
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2
Q

What points should you ask in a history if suspecting immunodeficiency?

A

Infection history

  • site
  • frequency
  • need for admission
  • PO/IV abx

Immunisation history

Family history

  • infections
  • autoimmunity
  • neonatal death
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3
Q

What are the categories of primary immunodeficiency?

A

Antibody (B cells)
Combined (T cells)
Complement
Phagocyte

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4
Q

What are the types of B cell disorders?

A

Selective IgA deficiency
Common variable immunodeficiency
X-linked agammaglobulinaemia

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5
Q

What is the presentation of selective IgA deficiency?

A

Recurrent mucous membrane infections

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6
Q

What is the immunoglobulin picture in selective IgA deficiency?

A

Low IgA

Normal IgM, IgG

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7
Q

What causes common variable immuodeficiency?

A

Genetic mutation in B cell components

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8
Q

What is the presentation of common variable immunodeficiency?

A

Recurrent respiratory tract infections

Unable to develop immunity

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9
Q

What is the immunoglobulin picture in common variable immunodeficiency?

A

Low IgG
Low IgA

+/- low IgM

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10
Q

How is common variable immunodeficiency managed?

A

Replace immunoglobulins

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11
Q

What is the inheritance of x-linked agammaglobulinaemia?

A

X-linked recessive

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12
Q

What age does x-linked agammaglobulinaemia present?

A

6 months

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13
Q

What is the presentation of x-linked agammaglobulinaema?

A

Recurrent infections

No tonsils

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14
Q

What is the immunoglobulin picture in x-linked agammaglobulinaemia?

A

Low IgG
Low IgM
Low IgA

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15
Q

What is SCID?

A

Severe combined immunodeficiency

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16
Q

What age does SCID present?

A

First few months

17
Q

How does SCID present?

A

Persistent severe diarrhoea
Failure to thrive
Opportunistic infections
Unwell after live vaccinations

18
Q

What causes SCID?

A

Mutation in common gamma chain on X chromosome that code for interleukin receptors on T and B cells

19
Q

What is the inheritance pattern of SCID?

A

X-linked recessive

20
Q

What is the management of SCID?

A

Treat underlying infections
Sterile environment
Hemopoietic stem cell transplant

21
Q

What are T cell disorders?

A

DiGeorge syndrome
Purine nucleoside phosphorylase deficiency
Ataxic telangiectasia

22
Q

What is DiGeorge syndrome?

A

22q11 deletion

23
Q

How does DiGeorge syndrome cause T cell problems?

A

Incomplete thymus development -> inability to create T cells

24
Q

What is the inheritance pattern of PNP deficiency?

A

Autosomal recessive

25
Q

How does PNP deficiency cause T cell problems?

A

PNP breaks down purines

Without PNP -> dGTP builds up

dGTP = toxic to T cells

26
Q

What is the inheritance pattern of ataxic telangiectasia?

A

Autosomal recessive

27
Q

What are the features of ataxic telangiectasia?

A

Ataxia - cerebellar impairment
Low T cells
Telangiectasia on sclera and damaged skin
Predisposition to haematological cancers

28
Q

What are features of complement disorders?

A

Recurrent capsulated bacteria infections

29
Q

What is a type of complement disorder?

A

C1 esterase inhibitor deficiency

30
Q

What happens in C1 esterase inhibitor deficiency?

A

C1 esterase inhibits bradykinin

Deficiency of inhibitor = intermittent angioedema

31
Q

What test should you do in C1 esterase inhibitor deficiency?

A

C4 levels

32
Q

How are complement disorders managed?

A

Vaccination against capsulated bacteria

Penicillin prophylaxis

33
Q

What are the common capsulated bacteria?

A

Haemophilus influenza B
Strep pneumoniae
Neisseria meningitides

34
Q

What is a type of phagocyte disorder?

A

Chronic granulomatous disease

35
Q

What happens in chronic granulomatous disease?

A

Deficiency of NADPH oxidase -> phagocytes cannot kill effectively

Recurrent bacterial and fungal infections

36
Q

How are phagocyte disorders managed?

A

Antibiotic + antifungal prophylaxis

Paediatrics (40 decks)

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