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PATH by individual lecture > Immunology 2 - Primary immune deficiencies parts 1 & 2 > Flashcards

Immunology 2 - Primary immune deficiencies parts 1 & 2 Flashcards

1
Q

Recall 3 infections that can cause immunodeficiency

A

HIV
Measles virus
Mycobacterial infection

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2
Q

Recall 3 diseases of neutrophil deficiency

A

Reticular dysgenesis
Kostmann syndrome
Cyclic neutropenia

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3
Q

What is the cause of Leukocyte adhesion deficiency?

A

CD18 deficiency - failure to express this ligand means they cannot exit the bloodstream

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4
Q

What will be the most obvious abnormal result on the blood count in leukocyte adhesion deficiency?

A

Very high neutrophils (they cannot exit the bloodstream)

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5
Q

What is chronic granulomatous disease?

A

A failure of phagocytic oxidative killing mechanisms

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6
Q

Recall 2 tests that are useful in the investigation of chronic granulomatous disease

A
  1. Nitroblue tetrazolium test (negative = blue, positive = yellow)
  2. Dihydrohodamine flow cytometry test (negative = fluorescent)
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7
Q

Which innate immunodeficiency is characterised by severe chickenpox and disseminated CMV infection?

A

Classic Natural Killer cell deficiency

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8
Q

Which innate immunodeficiency is characterised by recurrent infections with hepatosplenomegaly and abnormal dihydrohodamine test (does not fluoresce)?

A

Chronic granulomatous disease

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9
Q

Which innate immunodeficiency is characterised by recurrent infections with no neutrophils on FBC?

A

Kostmann syndrome

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10
Q

Which innate immunodeficiency is characterised by infection with atypical mycobacterium, and a normal FBC?

A

IFN gamma receptor deficiency

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11
Q

Which innate immunodeficiency is characterised by recurrent infections with high neutrophil count on FBC but no abscess formation?

A

Leukocyte adhesion deficiency

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12
Q

With which innate immunity deficiency is meningococcal septicaemia associated?

A

Deficiency of complement (C1q)

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13
Q

With which innate immunodeficiency is membranoproliferative nephritis and abnormal fat distribution associated?

A

C3 deficiency with presence of a nephritic factor

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14
Q

What mutation is causative of X-linked SCID?

A

Common gamma chain on chromosome Xq13.1

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15
Q

Describe the phenotype of X-linked SCID in terms of T, B and NK cell numbers

A

T cells: very low or absent

B cells: Normal or increased B cells, but LOW Igs

NK cells: very low or absent

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16
Q

How does adenosine deaminase deficiency affect the immune system?

A

This enzyme is necessary for cell metabolism in lymphocytes.

When it is deficient, there is early arrest of T and NK cell development and production of immature B cells.

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17
Q

Describe the phenotype of ADA deficiency in terms of T, B and NK cell numbers

A

All very low or absent

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18
Q

Describe the clinical phenotype of SCID

A
  1. Unwell by 3 months of age
  2. Infections of all types
  3. Failure to thrive
  4. Persistent diarrhoea
  5. Unusual skin disease
  6. Family history of early infant death
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19
Q

What is the gene mutation implicated in DiGeorge syndrome?

A

22q11.2 deletion

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20
Q

How does DiGeorge syndrome affect B and T cell levels?

A

Normal B cells

Reduce T cells

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21
Q

What is bare lymphocyte syndrome type 2?

A

Absent expression of MHC class II causing severe deficiency of CD4+ T helper cells –> results in low IgG OR IgA

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22
Q

What inherited immunodeficiency might cause a profound deficiency of CD4+ T cells specifically?

A

Bare lymphcoyte syndrome type 2

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23
Q

What is reticular dysgenesis?

A

Failure of stem cells in BM to differentiate along myeloid or lymphoid lineage

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24
Q

What is Kostmann syndrome?

A

Failure of neutrophils to mature - causes a congenital neutropenia

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25
What is cyclic neutropaenia?
Autosomal dominant episodic neutropenia every 4-6 weeks
26
What are the features of chronic granulomatous disease?
Absent respiratory burst, leading to: - Excessive inflammation - Granuloma formation - Lymphadenopathy - Hepatosplenomegaly
27
What immunodeficiency are recurrent skin and mouth infections most likely to be indicative of?
Phagocyte deficiency
28
Which phagocyte deficiency has absent neutrophils and normal leukocyte adhesion molecules?
Kostmann syndrome
29
Which phagocyte deficiency has absent CD18 and increased neutrophils?
Leukocyte adhesion deficiency
30
Which phagocyte deficiency has normal neutrophil levels and leukocyte adhesion markers, an abormal NBT/DHR test and pus is produced?
Chronic granulomatous disease
31
Which phagocyte deficiency has normal neutrophil levels and leukocyte adhesion markers, a normal NBT/DHR test but no pus is produced?
Cytokine deficiency (IL12/IFN gamma pathway)
32
Describe the classical pathway of complement activation
Antibody-antigen complex (involves C1,C3,C4)
33
Describe the MBL pathway of complement activation
Activation of complement by the direct binding of MBL to microbial cell surface carbohydrates
34
Describe the alternate pathway of complement activation
Involves bacterial cell wall
35
Name 3 encapsulated bacteria
NHS Neisseria meningitides Haemophilus influennzae Streptococcus pneumoniae
36
What does classical complement pathway deficiency increase susceptibility to?
SLE
37
Susceptibility to encapsulated bacteria may be indicative of what type of immunodeficiency?
Complement deficiency
38
How does SLE affect complement?
Persistent production of immune complexes --> activation of classical pathway --> low levels of C3 and C4 (functional complement deficiency)
39
What are the standard tests in suspected complement deficiency?
C3 C4 CH50 AP50
40
What does CH50 measure?
Classical complement pathway
41
What does AP50 measure?
Alternative complement pathway
42
Which complement function test would be abnormal in C1q deficiency?
CH50
43
Which tests would be abornmal in C9 deficiency?
CH50 and AP50
44
Which complement deficiency is most associated with developmental SLE?
C1q deficiency
45
In which complement pathway is properdin found?
Alternative
46
Which complement deficiency is most associated with meningococcal disease?
C7 deficiency
47
How do phagocytes detect pathogens at the site of infection?
Expression of genetically-coded receptors such as toll-like receptors, which detect PAMPs
48
What type of B cells produce IgM?
Pro B cells
49
What is the most severe form of SCID?
Reticular dysgenesis
50
What is the most common form of SCID?
X-linked SCID
51
Why are SCID babies initially protected?
IgG of mother
52
Why does Di George syndrome produce immunodeficiency?
Abnormality of development of pharyngeal pouch --> absent thymus
53
What test can be used to see lymphocyte subsets in a blood sample?
FACS (flow cytometry)
54
What is Bruton's X-linked hypogammaglobinaemia?
Abnormality in B cell tyrosine kinase gene: Pre B cells don't mature so no Ig after around 3 months Only affects boys
55
What is the inheritance pattern of hyper IgM syndrome?
X linked
56
What is hyper IgM syndrome?
B cell maturation defect which results in T cells not expressing CD40 (Failure of T cell co-stimulation)
57
In which disease is CD40 not expressed on activated T cells?
Hyper IgM syndrome
58
Which syndrome is characterised by elevated IgM and undetectable IgA, IgE and IgG?
Hyper IgM syndrome
59
Which disease is marked by reduction in IgG with low either IgA/IgM
Common variable immune deficiency
60
What are the clinical features of common variable immune deficiency?
Recurrent bacterial infections Pulmonary disease (in particular granulomatous interstitial lung disease) GI disease
61
What % of Selective IgA deficiency patients are symptomatic, and what are these symptoms?
1/3 | Recurrent GI and resp infections
62
How are B cell deficiencies managed?
Lifelong immunoglobulin replacement
63
Recall the levels of T, B and NK cells in ADA deficiency
All very low or absent
64
What mutation causes reticular dysgenesis?
Adenylate kinase 2 (AKA2) - a mitochondrial energy enzyme
65
What mutation causes kostmann syndrome?
HCLS1-associated protein X-1 (HAX-1)
66
What mutation causes cyclic neutropaenia?
Neutrophil elastase (ELA-2)
67
What can be used to treat chronic granulomatous disease?
Interferon gamma (as this stimulates macrophages)
68
What are the symptoms of DiGeorge syndrome?
``` CATCH 22 Cardiac abnormalities (especially ToF) Abnormal facies (low set ears) Thymic aplasia Cleft palate Hypoalcaemia/hypoPTHism Chromosome 22 ```
69
Recall some clinical signs of bare lymphocyte syndrome
Hepatomegaly and jaundice | May be associated with sclerosing cholangitis
70
What is the inheritance pattern of Wiskott-Aldrich Syndrome?
X linked recessive
71
What mutation causes Wiskott-Aldrich Syndrome?
WASP gene mutation (actin cytoskeleton rearrangement which is needed to stabilise T cell-APC interaction)
72
Which immunodeficiency might cause a low IgM with raised IgA and IgE?
Wiskott-Aldrich Syndrome
73
What comborbidity does Wiskott-Aldrich Syndrome put you at risk of?
Malignant lymphoma
74
What is the prevelance of selective IgA deficiency?
1:600
75
Recall 3 clinical features of hyper IgM syndrome
Pneumocystis jiroveci infection Autoimmune disease Malignancy
76
At what age does common variable immune deficiency present?
Adulthood
77
Which mutation is most likely to be the cause of CVID?
MHC class III - causing aberrant class switching

PATH by individual lecture (84 decks)

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