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Immunology > 3: Primary Immunodeficiency > Flashcards

3: Primary Immunodeficiency Flashcards

1
Q

What is primary immunodeficiency that impacts T cells

A

DiGeorge’s Syndrome

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2
Q

What is DiGeorge’s syndrome

A

22Q11 deletion syndrome

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3
Q

What does DiGeorge’s syndrome cause

A

Failure 3rd and 4th pharyngeal pouch to develop

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4
Q

What is a mnemonic to remember symptoms of DiGeorge’s

A

CATCH

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5
Q

What are general symptoms of DiGeorge’s

A

Cardiac

Anomalous face

Thymus dysplasia

Cleft palate

Hypoparathyroidism

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6
Q

What cardiac anomalies are present in DiGeorge’s

A

VSD
ASD
TOF

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7
Q

What facial anomalies are present in DiGeorge’s

A

Micrognathia

Prominent nasal bridge

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8
Q

What does thymus dysplasia lead to

A

Infections due to T-cell deficiency = VIRAL and FUNGAL infections

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9
Q

What does hypoparathyroidism cause

A

Hypocalcaemia

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10
Q

What investigation is most important in DiGeorge’s

A

FISH - for chromosomes

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11
Q

What may bone profile show

A

Hypocalcaemia, Hypoparathyroidism

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12
Q

What may FBC show

A

Low T-Cells

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13
Q

Name 3 syndromes that cause T and B cell Defects

A

(WAS):

  • Wiskott-Aldrich
  • Ataxic Telangiectasia
  • SCID
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14
Q

What is the inheritance pattern of SCID

A

Autosomal recessive or X-Linked recessive

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15
Q

What mutation is most commonly associated with SCID

A

JAK3

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16
Q

When do symptoms of SCID onset

A
  • Individual is normal at birth

- Symptoms onset at 1-month

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17
Q

What are symptoms of SCID

A

Chronic diarrhoea
Recurrent fungal and viral infection
Persistent thrush

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18
Q

How will FBC present in SCID

A

Low T and B cells

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19
Q

What is the only curative measure for SCID

A

Bone marrow transplant

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20
Q

What is the inheritance pattern of Wiskott-Aldrich

A

X-Linked recessive

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21
Q

What gene is mutated in Wiskott-Aldrich

A

Wasp gene - responsible for actin cytoskeleton

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22
Q

What is the classic triad in Wiskott-Aldrich

A
  • Eczema
  • Bleeding diathesis
  • Infection encapsulated bacteria during first-year of life (eg. otitis media)
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23
Q

What is the mnemonic to remember presentation of Wiskott-Aldrich

A

WIPE:

Wiskott-Aldrich
Infections encapsulated bacteria
Purpura
Eczema

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24
Q

What anomaly will be seen on FBC in Wiskott-Aldrich

A

Thrombocytopenia

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25
Q

What is the inheritance pattern of ataxic telangiectasia

A

Autosomal recessive

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26
Q

What gene is mutated in ataxic telangiectasia

A

ATM - encoding DNA repair enzymes

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27
Q

What are the 3A’s of ataxia telangectasia

A

Ataxia
spider Angiomas
IgA deficiency

28
Q

What is the stereotype for ataxia telangiectasia

A

Young child with recurrent chest infections and movement disorders

29
Q

What does ataxic telangiectasia increase the risk of

A

Malignancy: lymphoma, leukaemia

30
Q

What are the 3 B-Cell disorders

A
  • Burton’s disease
  • Combined variable immunodeficiency
  • IgA deficiency
31
Q

What is Bruton’s disease also known as

A

X-linked agammaglobulinaemia

32
Q

What gene is mutated in burton’s disease

A

BTK (Burton’s tyrosine kinase)

33
Q

when do symptoms of burton’s disease manifest and why

A

At 4 months - this is when maternal IgG drops

34
Q

what are classic symptoms of burton’s disease

A

Hypoplastic tonsils

Recurrent pyogenic infections

35
Q

What is common variable immunodeficiency

A

Where B cells appear phenotypically normal - however there is low Ig

36
Q

When do symptoms of combined variable immunodeficiency manifest

A

25-30 year-olds

37
Q

How do symptoms of combined variable immunodeficiency present

A

Recurrent sinopulmonary infections

38
Q

What is the most common primary immunodeficiency disorder

A

Selective IgA deficiency

39
Q

What is selective IgA deficiency

A

Low IgA

40
Q

How does selective IgA deficiency present

A

Chronic diarrhoea and recurrent respiratory infections

41
Q

What organism commonly causes diarrhoea in selective IgA deficiency

A

Giardiasis

42
Q

What can happen in selective IgA deficiency

A

Anaphylactic reaction to products containing IgA

43
Q

Why can IgA infusions not just be given to those with selective IgA deficiency

A

Trigger anaphylaxis

44
Q

In what procedure does extra-care need to be taken in selective IgA deficiency

A

Blood transfusion - need washed sample so it does not contain IgA

45
Q

What are 3 neutrophils defects

A

Chronic granulomatous
Chediak-Higashi
Leucocyte adhesion defect

46
Q

What is chronic granulomatous disease causes by

A

Failure superoxide production - inability of phagocytes to produce ROS

47
Q

What is the inheritance pattern of chronic granulomatous disease

A

X-linked recessive

48
Q

What is a feature or chronic granulomatous disease

A

Granulomas

Recurrent infections

49
Q

What is chediak higashi

A

failure phagocyte and lysosome to fuse

50
Q

What is the inheritance pattern of chediak higashi

A

autosomal recessive

51
Q

what are the features of chediak higashi

A
  • Albinism
  • Recurrent pyogenic infections
  • Peripheral neuropathy
52
Q

if a child has recurrent infections and peripheral neuropathy, what is the cause

A

Chediak Higashi

53
Q

What will be seen on peripheral smear in chediak higashi

A

Giant cytoplasmic granules

54
Q

What is leucocyte adhesion deficiency

A

Failure chemotaxis of leucocytes and hence phagocyte activity

55
Q

What is the inheritance pattern of LAD

A

Autosomal recessive

56
Q

What is a feature of LAD may be seen in early neonatal period

A
  • Delayed separation umbilical cord

- Omphalitis (infection umbilical stump_)

57
Q

What are later features of LAD

A

Impaired wound healing - minimal inflammation and no pus

58
Q

What is the inheritance pattern of hereditary angioedema

A

autosomal dominant

59
Q

What is hereditary angioedema

A

congenital abnormality where there is deficiency C1 inhibitor protein

60
Q

where is C1 inhibitor protein found

A

chromosome 11

61
Q

how does hereditary angio-oedema present clinically

A

adolscence with episodes of itching around the mouth or pharynx

62
Q

what is a common precipitant of hereditary angio-oedema

A

dental aesthetics = lidocaine

63
Q

how is hereditary angioedema diagnosed

A

Complement levels

64
Q

what is seen on complement testing in hereditary angioedema

A
  • Normal C3

- Low C4

65
Q

how is hereditary angioedema managed

A
  • C1 inhibitory concentrate

- Danazol = to increase C4

66
Q

what is contraindicated in hereditary angio-oedema and why

A

ACEi - due to bradykinin accumulation

Immunology (2 decks)

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