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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
What is the inheritance pattern of ataxic telangiectasia
Autosomal recessive
26
What gene is mutated in ataxic telangiectasia
ATM - encoding DNA repair enzymes
27
What are the 3A's of ataxia telangectasia
Ataxia spider Angiomas IgA deficiency
28
What is the stereotype for ataxia telangiectasia
Young child with recurrent chest infections and movement disorders
29
What does ataxic telangiectasia increase the risk of
Malignancy: lymphoma, leukaemia
30
What are the 3 B-Cell disorders
- Burton's disease - Combined variable immunodeficiency - IgA deficiency
31
What is Bruton's disease also known as
X-linked agammaglobulinaemia
32
What gene is mutated in burton's disease
BTK (Burton's tyrosine kinase)
33
when do symptoms of burton's disease manifest and why
At 4 months - this is when maternal IgG drops
34
what are classic symptoms of burton's disease
Hypoplastic tonsils | Recurrent pyogenic infections
35
What is common variable immunodeficiency
Where B cells appear phenotypically normal - however there is low Ig
36
When do symptoms of combined variable immunodeficiency manifest
25-30 year-olds
37
How do symptoms of combined variable immunodeficiency present
Recurrent sinopulmonary infections
38
What is the most common primary immunodeficiency disorder
Selective IgA deficiency
39
What is selective IgA deficiency
Low IgA
40
How does selective IgA deficiency present
Chronic diarrhoea and recurrent respiratory infections
41
What organism commonly causes diarrhoea in selective IgA deficiency
Giardiasis
42
What can happen in selective IgA deficiency
Anaphylactic reaction to products containing IgA
43
Why can IgA infusions not just be given to those with selective IgA deficiency
Trigger anaphylaxis
44
In what procedure does extra-care need to be taken in selective IgA deficiency
Blood transfusion - need washed sample so it does not contain IgA
45
What are 3 neutrophils defects
Chronic granulomatous Chediak-Higashi Leucocyte adhesion defect
46
What is chronic granulomatous disease causes by
Failure superoxide production - inability of phagocytes to produce ROS
47
What is the inheritance pattern of chronic granulomatous disease
X-linked recessive
48
What is a feature or chronic granulomatous disease
Granulomas | Recurrent infections
49
What is chediak higashi
failure phagocyte and lysosome to fuse
50
What is the inheritance pattern of chediak higashi
autosomal recessive
51
what are the features of chediak higashi
- Albinism - Recurrent pyogenic infections - Peripheral neuropathy
52
if a child has recurrent infections and peripheral neuropathy, what is the cause
Chediak Higashi
53
What will be seen on peripheral smear in chediak higashi
Giant cytoplasmic granules
54
What is leucocyte adhesion deficiency
Failure chemotaxis of leucocytes and hence phagocyte activity
55
What is the inheritance pattern of LAD
Autosomal recessive
56
What is a feature of LAD may be seen in early neonatal period
- Delayed separation umbilical cord | - Omphalitis (infection umbilical stump_)
57
What are later features of LAD
Impaired wound healing - minimal inflammation and no pus
58
What is the inheritance pattern of hereditary angioedema
autosomal dominant
59
What is hereditary angioedema
congenital abnormality where there is deficiency C1 inhibitor protein
60
where is C1 inhibitor protein found
chromosome 11
61
how does hereditary angio-oedema present clinically
adolscence with episodes of itching around the mouth or pharynx
62
what is a common precipitant of hereditary angio-oedema
dental aesthetics = lidocaine
63
how is hereditary angioedema diagnosed
Complement levels
64
what is seen on complement testing in hereditary angioedema
- Normal C3 | - Low C4
65
how is hereditary angioedema managed
- C1 inhibitory concentrate | - Danazol = to increase C4
66
what is contraindicated in hereditary angio-oedema and why
ACEi - due to bradykinin accumulation

Immunology (2 decks)

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