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Path Y > Immunology - Primary immune deficiencies parts 1 & 2 > Flashcards

Immunology - 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. Give their modes of inheritance

A

Reticular dysgenesis - recessive
Kostmann syndrome - recessive
Cyclic neutropenia - dominant

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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 (NBT) test (change from yellow to blue when contact w h202)
    - stays negative (yellow in CGD)
  2. Dihydrohodamine flow (DHR) 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 dihydroRHODAMINE 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 C7

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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 X q13.1
so unable to respond to cytokines

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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 Ig

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 NO production of B cells.
unable to respond to cytokines

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17
Q

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

A

All very low or absent
key diff between x scid

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18
Q

what happens in first 3 months with SCID and ADA

A

neonate is protected from these conditions due to IgG for maternal placental supply and IgG from breast milks (not as good as former)

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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 
B cells & CD8 number are normal
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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 Kostmann syndrome?

A

Failure of neutrophils to mature - causes a congenital neutropenia

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24
Q

What is cyclic neutropaenia?

A

Autosomal dominant episodic neutropenia every 3 weeks

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25
Q

What are the features of chronic granulomatous disease?

A

Absent respiratory burst, leading to:

  • Excessive inflammation
  • Granuloma formation
  • Lymphadenopathy
  • Hepatosplenomegaly
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26
Q

What immunodeficiency are recurrent skin and mouth infections most likely to be indicative of?

A

Phagocyte deficiency

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27
Q

Which phagocyte deficiency has absent neutrophils and normal leukocyte adhesion molecules?

A

Kostmann syndrome

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28
Q

Which phagocyte deficiency has absent CD18 and increased neutrophils?

A

Leukocyte adhesion deficiency (LAD)
they lack LFA-1

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29
Q

Which phagocyte deficiency has normal neutrophil levels and leukocyte adhesion markers, an abormal NBT/DHR test and pus is produced?

A

Chronic granulomatous disease

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30
Q

Which phagocyte deficiency has normal neutrophil levels and leukocyte adhesion markers, a normal NBT/DHR test but no pus is produced?

A

Cytokine deficiency (IL12/IFN gamma pathway)

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31
Q

Describe the classical pathway of complement activation

A

Antibody-antigen complex
antibody + C1, then C2, C4 to C3

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32
Q

Describe the mannose binding lectin pathway of complement activation

A

MBL, C2,C4 to C3
Activation of complement by the direct binding of MBL to microbial cell surface carbohydrates

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33
Q

Describe the alternate pathway of complement activation

A

Involves bacterial cell wall
PAMP (LPS, teichoic acid) to C3

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34
Q

complement deficiency increases chance of which bacterial infections

A

NHS
Neisseria meningitides
Haemophilus influennzae
Streptococcus pneumoniae

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35
Q

What does classical complement pathway deficiency increase susceptibility to?

A

classic = C1,C2,C4 deficiency
SLE/automimmunity

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36
Q

Susceptibility to encapsulated bacteria may be indicative of what type of immunodeficiency?

A

Complement deficiency

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37
Q

How does SLE affect complement?

A

Persistent production of immune complexes –> activation of classical pathway –> low levels of C3 and C4 (functional complement deficiency)

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38
Q

What are the standard tests in suspected complement deficiency?

A

C3 levels
C4 levels
CH50 - classical
AP50 + properdin and factors B & D - alternate

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39
Q

What does CH50 measure?

A

Classical complement pathway

40
Q

What does AP50 measure?

A

Alternative complement pathway

41
Q

Which complement function test would be abnormal in C1q deficiency?

A

CH50

42
Q

Which tests would be abornmal in C9 deficiency?

A

CH50 and AP50

43
Q

Which complement deficiency is most associated with developmental SLE?

A

C1q deficiency

44
Q

In which complement pathway is properdin found?

A

Alternative
alternative also involves factors B, P (above), D
regulated by factors H, I

45
Q

Which complement deficiency is most associated with meningococcal disease?

A

C7 deficiency

46
Q

How do phagocytes detect pathogens at the site of infection?

A

Expression of genetically-coded receptors such as toll-like receptors, which detect PAMPs - Pathogen-associated molecular pattern

47
Q

What type of B cells produce IgM?

A

Pro B cells

48
Q

What is the most severe form of SCID?

A

Reticular dysgenesis

49
Q

What is the most common form of SCID?

A

X-linked SCID

50
Q

Why are SCID babies initially protected?

A

IgG of mother

51
Q

Why does Di George syndrome produce immunodeficiency?

A

failure of thyme development

52
Q

What test can be used to see lymphocyte subsets in a blood sample?

A

FACS (flow cytometry)

53
Q

What is Bruton’s X-linked hypogammaglobulinaemia? what gene is affected and what’s the treatment?

A

Abnormality in B cell tyrosine kinase (BTK) gene:
Pre B cells don’t mature so no circulating Ig after around 3 months
Only affects boys
treat w IVIG

54
Q

What is the inheritance pattern of hyper IgM syndrome?

A

X linked

55
Q

What is X linked recessive hyper IgM syndrome?

A

mutation in CD40 ligand gene which is expressed by activated T cells
When there is a defect in CD40, this leads to defective T-cell interaction with B cells

56
Q

In which disease is CD40 not expressed on activated T cells?

A

Hyper IgM syndrome

57
Q

Which syndrome is characterised by elevated IgM and undetectable IgA, IgE and IgG?

A

Hyper IgM syndrome

58
Q

Which disease is marked by reduction in IgG with low either IgA/IgM

A

Common variable immune deficiency

59
Q

What are 2 features of common variable immune deficiency?

A

Recurrent bacterial infections
atypical SLE

60
Q

What % of Selective IgA deficiency patients are symptomatic, and what are these symptoms?

A

1/3
Recurrent GI and resp infections - mucosal surfaces
IgA deficiency is the most common inherited immunodeficiency,

61
Q

How are B cell deficiencies managed?

A

Lifelong immunoglobulin replacement

62
Q

Recall the levels of T, B and NK cells in ADA deficiency

A

All very low or absent

63
Q

What mutation causes reticular dysgenesis?

A

Adenylate kinase 2 (AKA2) - a mitochondrial energy enzyme

64
Q

What mutation causes kostmann syndrome?

A

HCLS1-associated protein X-1 (HAX-1)

65
Q

What mutation causes cyclic neutropaenia?

A

Neutrophil elastase (ELA-2)

66
Q

What can be used to treat chronic granulomatous disease?

A

Interferon gamma (as this stimulates macrophages)

67
Q

What are the symptoms of DiGeorge syndrome?

A

CATCH 22
Cardiac abnormalities (especially ToF)
Abnormal facies (low set ears)
Thymic aplasia
Cleft palate
Hypoalcaemia/hypoPTHism
Chromosome 22

68
Q

Recall some clinical signs of bare lymphocyte syndrome type 2

A

Hepatomegaly and jaundice
May be associated with sclerosing cholangitis

69
Q

What is the inheritance pattern of Wiskott-Aldrich Syndrome?

A

X linked recessive

70
Q

What mutation causes Wiskott-Aldrich Syndrome?

A

WASP gene mutation (actin cytoskeleton rearrangement which is needed to stabilise T cell-APC interaction)

71
Q

Which immunodeficiency might cause a low IgM with raised IgA and IgE?

A

Wiskott-Aldrich Syndrome

72
Q

What comborbidity does Wiskott-Aldrich Syndrome put you at risk of?

A

Malignant lymphoma

73
Q

What is the prevelance of selective IgA deficiency?

A

1:600

74
Q

Recall 3 clinical features of hyper IgM syndrome

A

Pneumocystis jiroveci infection
Autoimmune disease
Malignancy

75
Q

At what age does common variable immune deficiency present?

A

Adulthood

76
Q

Which mutation is most likely to be the cause of CVID?

A

MHC class III - causing aberrant class switching

77
Q

defiance of NK cells causes what type if infection

A

viral - HHV (HSV 1/2, VZV, EBV, CMV)
HPV

78
Q

classic presentation of leucocyte adhesion deficiency

A

delayed umbilical cord separation

79
Q

chronic granulomatous disease is a failure of what mechanisms? what enzyme is affected

A

failure of oxidative killing
part of NADPH oxidase is missing

80
Q

2 types of NK cell deficiency

A 
classic = absence of NK in PB 
functional = NK present but abnormal function
81
Q

what genes in classic and functional NK deficiency

A 
classic = GATA2 or MCM4 
functional = FCGR3A
82
Q

which pathways of complement activation are not dependent on acquired immune response

A

MBL
alternative

83
Q

C3 nephritic factors are associated w what 2 conditions

A

glomerulonephritis (membrandoprofilerative)
lipodystrophy

84
Q

management of complement deficiency

A

vaccination (pneumovax, Hib, meningovax)
prophylactic ABx
screen family

85
Q

management fo B cell deficiency

A

prophylaxis
IVIG

86
Q

outline 5 B cell maturation defect disorders

A
  1. Bruton X linked agammaglobulinaemia - failure of B cell maturation
  2. Selective IgA def - failure of IgA production
  3. CVID - failure of IgG production
  4. SCID - failure of lymphocyte precursor
  5. X linked hyper IgM - failure of T cell costimulation
87
Q

how do you detect DiGeorge?

A

FISH cytogenetic analysis
Fluorescence in situ hybridization

88
Q

inheritance of DiGeorge

A

dominant

89
Q

what are the primary lymphoid organs

A

BM - T & B cell derivation, B cell mature
thymus - T cell mature, most active in foetal and neonates

90
Q

outline 4 T cell deficiency disorders

A
  1. DiGeorge - failure of thymic develop
  2. Bare lymphocyte syndrome - failure to express HLA molecules
  3. SCID (X linked & ADA) - failure of lymphocyte precursors
  4. IFNg receptor deficiency, IF12 receptor def - failure of signalling/cytokine production
91
Q

4 treatment options for T cell immunodeficiency

A

HSCT - replace abnormal population in SCID, abnormal cells in care lymphocyte
enzyme replacement - PEG ADA enzyme for SCID
gene therapy
thymus transplant in DiGeorge

92
Q

give a feature of RD

A

sensorineural deafness

93
Q

what’s the treatment of rd a scid

A

hsct

94
Q

treatment of cyclic neutropaenia

A

Granulocyte Colony Stimulating Factor.

95
Q

where are IgA antibodies found in the body

A

mucosal surfaces
breast milk

96
Q

what type of cell does the respiratory burst/oxidative killing?

A

neutrophils
the neutrophils in CGD lack NADPH oxidase

97
Q

CD20 is a marker of what cells

A

mature B cells

(not plasma cells or immature)

Path Y (81 decks)

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