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Flashcards in Pathology Deck (115):
1

Osmolality

2(Na + K) + Urea + Glucose

2

Anion Gap

Na + K - Cl - bicarb

Normal: 140 + 4.0 - 102 - 24 = 18

3

pCO2 normal range

4 - 5 kPa

4

Type 2 diabetes definition

Fasting glucose > 7.0 mM

GTT: 75g glucose given at time 0.
At 2hr, plasma glucose > 11.1 mM

5

Impaired glucose tolerance

7.8 - 11.1 mM glucose 2hr after 75g glucose.

6

Impaired fasting glucose

5.5 - 7.0 mM

7

Normal ranges for different genders and ethnicities for:
Hb
MCV
WBC
Neutrophils
lymphocytes
eosinophils
monocytes
basophils
platelets

Hb females: 11.5 - 15.5 g/dL
Hb males: 13.5 - 17.5 g/dL
MCV: 80-100 fL
WBC: 4.0 - 11.0 x109/L
neutrophils: 2-7.5 x 109/L, 40-75% of WBCs.
lymphocytes: 1.3-3.5 x 109/L, 20-45% of WBCs.
eosinophils: 0.04-0.44 x 109/L, 1-6% of WBCs.
monocytes: 0.20.8 x 109/L. 2-10% of WBCs.
basophils: 0.01 x 109/L, 0-1% of WBCs.
platelets: 150-400 x 109/L

8

consequence of giving aspirin to children

reye syndrome - rash, vomiting, fatty liver, cerebral oedema, NO jaundice

9

Haemophilia A

Investigations?

Factor VIII deficiency
normal PT, prolonged PTT
X-linked recessive

10

Haemophilia B

Investigations?

Factor IX deficiency
normal PT, prolonged PTT
X-linked recessive

11

Haemophilia C

Factor XI deficiency
Autosomal dominant
does NOT lead to bleeding in joints

12

Match the following immune boosting treatments to their indications:

IFN alpha
Bone marrow transplantation
IFN gamma
EBV-specific CD8 T cells
Human normal immunoglobulin
Varicella zoster immunoglobulin

A. Post-transplant lymphoproliferative disorder
B. Part of treatment for Hepatitis C
C. X linked hyper IgM syndrome
D. X linked SCID
E. Chronic granulomatous disease
F. Immunosuppressed seronegative individual after chicken pox exposure

IFN alpha - B
Bone marrow transplantation - D
IFN gamma - E
EBV-specific CD8 T cells - A
Human normal immunoglobulin - C
Varicella zoster immunoglobulin - F

13

Match the following immunosuppressants to their side effects:

Cyclophosphamide
Prednisolone
Azathioprine
Cyclosporin
Mycophenolate mofetil

A. Osteoporosis
B. Infertility
C. Progressive multifocal leukoencephalopathy
D. Neutropenia particularly if TPMT low
E. Hypertension

Cyclophosphamide - B
Prednisolone - A
Azathioprine - D
Cyclosporin - E
Mycophenolate mofetil - C

14

Match the following immune modulators with their function:

Basiliximab (Anti-IL2 receptor)
Abatacept (CTLA4-Ig fusion protein)
Rituximab (Anti-CD20)
Natalizumab (Anti- a4 integrin)
Tocilizumab (Anti-IL6 receptor)

A. Inhibits T cell migration but may only be used in highly active remitting/relapsing MS
B. Inhibits T cell activation and is effective in rheumatoid arthritis
C. Depletes B cells and is effective in treatment of B cell lymphomas and rheumatoid arthritis
D. Inhibits function of lymphoid and myeloid cells and used in management of rheumatoid arthritis
E. Antibody specific for CD25 which inhibits T cell activation and is used to prevent rejection

Basiliximab (Anti-IL2 receptor) - E
Abatacept (CTLA4-Ig fusion protein) - B
Rituximab (Anti-CD20) - C
Natalizumab (Anti- a4 integrin) - A
Tocilizumab (Anti-IL6 receptor) - D

15

Match diseases with drug and drug action:

Psoriasis
Rheumatoid arthritis
Osteoporosis
Crohn’s disease

1. Ustekinumab or etanercept
2. Infliximab
3. Denosumab
4. Adalimumab or tocilizumab

A. Inhibit RANK ligand
B. Inhibit IL12/23 or TNF alpha
C. Inhibit TNF alpha
D. Inhibit IL6 or TNF alpha

Psoriasis - 1B
Rheumatoid arthritis - 2C
Osteoporosis - 3A
Crohn’s disease - 4D

16

Recurrent infections with high neutrophil count on FBC but no abscess formation

A. IFN gamma receptor deficiency
B. Leukocyte adhesion deficiency
C. Chronic granulomatous disease
D. Kostmann syndrome

B. Leukocyte adhesion deficiency

17

Recurrent infections with hepatosplenomegaly and abnormal dihydrorhodamine test

A. IFN gamma receptor deficiency
B. Leukocyte adhesion deficiency
C. Chronic granulomatous disease
D. Kostmann syndrome

C. Chronic granulomatous disease

18

Recurrent infections with no neutrophils on FBC

A. IFN gamma receptor deficiency
B. Leukocyte adhesion deficiency
C. Chronic granulomatous disease
D. Kostmann syndrome

D. Kostmann syndrome

19

Infection with atypical mycobacterium. Normal FBC

A. IFN gamma receptor deficiency
B. Leukocyte adhesion deficiency
C. Chronic granulomatous disease
D. Kostmann syndrome

A. IFN gamma receptor deficiency

20

Severe recurrent infections from 3 months,CD4 and CD8 T cells absent, B cell present, IgM present, IgA and IgG absent

A. Bare lymphocyte syndrome type II
B. X-linked SCID
C. DiGeorge’s syndrome
D. IFN gamma receptor deficiency

B. X-linked SCID

21

Young adult with chronic infection with Mycobacterium marinum

A. Bare lymphocyte syndrome type II
B. X-linked SCID
C. DiGeorge’s syndrome
D. IFN gamma receptor deficiency

D. IFN gamma receptor deficiency

22

Recurrent infections in childhood, abnormal facial features, congenital heart disease, normal B cells, low T cells, low IgA and IgG

A. Bare lymphocyte syndrome type II
B. X-linked SCID
C. DiGeorge’s syndrome
D. IFN gamma receptor deficiency

C. DiGeorge’s syndrome

23

14 month baby with two recent serious bacterial infections. T cells present – but only CD8+ population. B cells present. IgM present but IgG absent

A. Bare lymphocyte syndrome type II
B. X-linked SCID
C. DiGeorge’s syndrome
D. IFN gamma receptor deficiency

A. Bare lymphocyte syndrome type II

24

Adult with bronchiectasis, recurrent sinusitis and development of atypical SLE

A. IgA deficiency
B. Common variable immunodeficiency
C. Bruton’s X linked hypogammaglobulinaemia
D. X linked hyper IgM syndrome due to CD40ligand mutation

B. Common variable immunodeficiency

25

Recurrent bacterial infections in a child, episode of pneumocystis pneumonia, high IgM, absent IgA and IgG

A. IgA deficiency
B. Common variable immunodeficiency
C. Bruton’s X linked hypogammaglobulinaemia
D. X linked hyper IgM syndrome due to CD40ligand mutation

D. X linked hyper IgM syndrome due to CD40ligand mutation

26

1 year old boy. Recurrent bacterial infections. CD4 and CD8 T cells present. B cells absent, IgG, IgA, IgM absent

A. IgA deficiency
B. Common variable immunodeficiency
C. Bruton’s X linked hypogammaglobulinaemia
D. X linked hyper IgM syndrome due to CD40ligand mutation

C. Bruton’s X linked hypogammaglobulinaemia

27

Recurrent respiratory tract infections, absent IgA, normal IgM and IgG

A. IgA deficiency
B. Common variable immunodeficiency
C. Bruton’s X linked hypogammaglobulinaemia
D. X linked hyper IgM syndrome due to CD40ligand mutation

A. IgA deficiency

28

Membranoproliferative nephritis and bacterial infections

A. C9 deficiency
B. C3 deficiency with presence of a nephritic factor
C. MBL deficiency
D. C1q deficiency

B. C3 deficiency with presence of a nephritic factor

29

Meningococcus meningitis with family history of sibling dying of same condition aged 6

A. C9 deficiency
B. C3 deficiency with presence of a nephritic factor
C. MBL deficiency
D. C1q deficiency

A. C9 deficiency

30

Severe childhood onset SLE with normal levels of C3 and C4

A. C9 deficiency
B. C3 deficiency with presence of a nephritic factor
C. MBL deficiency
D. C1q deficiency

D. C1q deficiency

31

Recurrent infections when receiving chemotherapy but previously well

A. C9 deficiency
B. C3 deficiency with presence of a nephritic factor
C. MBL deficiency
D. C1q deficiency

C. MBL deficiency

32

Expresses Foxp3 and CD25 and secretes IL-10. Deficient in the monogenic autoimmune disease known as IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome)

1. Th17 cell
2. Macrophage
3. Epithelial cell
4. T reg cell
5. Dendritic cell
6. CD4+ T cell
7. Neutrophil
8. Th1 cell
9. Plasma cell
10. Megakaryocyte
11. Lymphocyte

4. T reg cell

33

In the immature form these cells are adapted for recognition and uptake of pathogens. Maturation is associated with expression of CCR7, migration to lymph nodes and enhanced capacity for antigen presentation.

OPTION LIST
1. Th17 cell
2. Macrophage
3. Epithelial cell
4. T reg cell
5. Dendritic cell
6. CD4+ T cell
7. Neutrophil
8. Th1 cell
9. Plasma cell
10. Megakaryocyte
11. Lymphocyte

5. Dendritic cell

34

These cells can be rapidly mobilised from bone marrow. They express pathogen recognition receptors and Fc receptors and are able to engage in oxidative and non-oxidative killing. They do not express HLA class II molecules and so do not activate CD4 T cells. They are the predominant cell type in synovial fluid taken from patients with gout,

OPTION LIST
1. Th17 cell
2. Macrophage
3. Epithelial cell
4. T reg cell
5. Dendritic cell
6. CD4+ T cell
7. Neutrophil
8. Th1 cell
9. Plasma cell
10. Megakaryocyte
11. Lymphocyte

7. Neutrophil

35

These cells may be formed following a germinal centre reaction involving isotype switching and affinity maturation of receptors. They are long-lived and reside in bone marrow.

OPTION LIST
1. Th17 cell
2. Macrophage
3. Epithelial cell
4. T reg cell
5. Dendritic cell
6. CD4+ T cell
7. Neutrophil
8. Th1 cell
9. Plasma cell
10. Megakaryocyte
11. Lymphocyte

9. Plasma cell

36

These cells express CD3 and secrete IL-17 and IL-22. They are thought to be important in some auto-immune conditions including rheumatoid arthritis.

OPTION LIST
1. Th17 cell
2. Macrophage
3. Epithelial cell
4. T reg cell
5. Dendritic cell
6. CD4+ T cell
7. Neutrophil
8. Th1 cell
9. Plasma cell
10. Megakaryocyte
11. Lymphocyte

1. Th17 cell

37

These cells may be resident in peripheral tissues (eg Kupffer cells in liver, microglia in neural tissue) express pathogen recognition receptors and Fc receptors and are able to engage in oxidative and non-oxidative killing. They are an important source of cytokines such as IL-1 and TNF-alpha and are thought to play an important role in some auto-inflammatory and auto-immune diseases.

OPTION LIST
1. Th17 cell
2. Macrophage
3. Epithelial cell
4. T reg cell
5. Dendritic cell
6. CD4+ T cell
7. Neutrophil
8. Th1 cell
9. Plasma cell
10. Megakaryocyte
11. Lymphocyte

2. Macrophage

38

The normal function of these cells is to express cytokines in response to recognition of specific peptides presented by HLA class II molecules. Depletion of these cells during HIV infection is an important factor in development of AIDS.

OPTION LIST
1. Th17 cell
2. Macrophage
3. Epithelial cell
4. T reg cell
5. Dendritic cell
6. CD4+ T cell
7. Neutrophil
8. Th1 cell
9. Plasma cell
10. Megakaryocyte
11. Lymphocyte

6. CD4+ T cell

39

Play a role in protective immunity against HIV infection by killing virus infected cells via perforin and FAS.

OPTION LIST
1. Gp120
2. Anti-metabolites
3. CCR5
4. Reverse transcriptase
5. Basophils
6. Gastric parietal cells
7. Protease inhibitors
8. CCR7
9. Macrophages
10. CD8 T cells
11.IL-8

10. CD8 T cells

40

Acts as a co-receptor for HIV entry to cells

1. Gp120
2. Anti-metabolites
3. CCR5
4. Reverse transcriptase
5. Basophils
6. Gastric parietal cells
7. Protease inhibitors
8. CCR7
9. Macrophages
10. CD8 T cells
11.IL-8

3. CCR5

41

Serves to generate complementary DNA from RNA, which can then be integrated into host cell genes

1. Gp120
2. Anti-metabolites
3. CCR5
4. Reverse transcriptase
5. Basophils
6. Gastric parietal cells
7. Protease inhibitors
8. CCR7
9. Macrophages
10. CD8 T cells
11.IL-8

4. Reverse transcriptase

42

Directs homing of dendritic cells to lymph nodes

1. Gp120
2. Anti-metabolites
3. CCR5
4. Reverse transcriptase
5. Basophils
6. Gastric parietal cells
7. Protease inhibitors
8. CCR7
9. Macrophages
10. CD8 T cells
11.IL-8

8. CCR7

43

Are often infected by HIV if they express CD4

1. Gp120
2. Anti-metabolites
3. CCR5
4. Reverse transcriptase
5. Basophils
6. Gastric parietal cells
7. Protease inhibitors
8. CCR7
9. Macrophages
10. CD8 T cells
11.IL-8

9. Macrophages

44

Antibodies against this target are partially protective against HIV infection

1. Gp120
2. Anti-metabolites
3. CCR5
4. Reverse transcriptase
5. Basophils
6. Gastric parietal cells
7. Protease inhibitors
8. CCR7
9. Macrophages
10. CD8 T cells
11.IL-8

1. Gp120

45

Are effective in management of HIV infection if used in combination with other drugs

1. Gp120
2. Anti-metabolites
3. CCR5
4. Reverse transcriptase
5. Basophils
6. Gastric parietal cells
7. Protease inhibitors
8. CCR7
9. Macrophages
10. CD8 T cells
11.IL-8

7. Protease inhibitors

46

Mutation in MEFV leads to failure to regulate neutrophil function

Rheumatoid arthritis
Familial Mediterranean Fever
IPEX (immune dysregulation polyendocrinopathy, enteropathy, X linked syndrome)
Crohn’s disease
Ankylosing Spondylitis

Familial Mediterranean Fever

47

Polygenic auto-inflammatory disease in which NOD-2 (CARD 15) mutations are common

Rheumatoid arthritis
Familial Mediterranean Fever
IPEX (immune dysregulation polyendocrinopathy, enteropathy, X linked syndrome)
Crohn’s disease
Ankylosing Spondylitis

Crohn’s disease

48

Mixed pattern disease with very high heritability (>90%) and a strong association with HLA-B27

Rheumatoid arthritis
Familial Mediterranean Fever
IPEX (immune dysregulation polyendocrinopathy, enteropathy, X linked syndrome)
Crohn’s disease
Ankylosing Spondylitis

Ankylosing Spondylitis

49

Polygenic auto-immune disease associated with polymorphisms in PAD enzymes (which citrullinate proteins). Environmental factors including smoking and gum infection are associated with disease.

Rheumatoid arthritis
Familial Mediterranean Fever
IPEX (immune dysregulation polyendocrinopathy, enteropathy, X linked syndrome)
Crohn’s disease
Ankylosing Spondylitis

Rheumatoid arthritis

50

Monogenic auto-immune disease due to a mutation in Foxp3

Rheumatoid arthritis
Familial Mediterranean Fever
IPEX (immune dysregulation polyendocrinopathy, enteropathy, X linked syndrome)
Crohn’s disease
Ankylosing Spondylitis

IPEX (immune dysregulation polyendocrinopathy, enteropathy, X linked syndrome)

51

Congenital heart block in infants of mothers with SLE

Anti-DNA antibody
Anti-RNP antibody
Anti-GAD antibody
Anti-centromere antibody
Anti-Ro antibody

Anti-Ro antibody

52

Lupus nephritis

Anti-DNA antibody
Anti-RNP antibody
Anti-GAD antibody
Anti-centromere antibody
Anti-Ro antibody

Anti-DNA antibody

53

Mixed connective tissue disease

Anti-DNA antibody
Anti-RNP antibody
Anti-GAD antibody
Anti-centromere antibody
Anti-Ro antibody

Anti-RNP antibody

54

Limited cutaneous systemic sclerosis

Anti-DNA antibody
Anti-RNP antibody
Anti-GAD antibody
Anti-centromere antibody
Anti-Ro antibody

Anti-centromere antibody

55

Sjogren’s syndrome

Anti-DNA antibody
Anti-RNP antibody
Anti-GAD antibody
Anti-centromere antibody
Anti-Ro antibody

Anti-Ro antibody

56

Antibody to gastric parietal cells

Pernicious anaemia

57

Anti-smooth muscle antibody

Autoimmune hepatitis

58

Anti-endomysial antibody

Coeliac disease
Dermatitis herpetiformis

59

Anti-tissue transglutaminase antibody

Coeliac disease
Dermatitis herpetiformis

60

Anti-mitochondrial antibody

Primary biliary cirrhosis

61

Mediated predominantly by antibodies which usually form after the transplantation

Hyperacute rejection
Acute cellular rejection
Acute vascular rejection
Chronic allograft rejection

Acute vascular rejection

62

Both immunological and non-immunological mechanisms contribute

Hyperacute rejection
Acute cellular rejection
Acute vascular rejection
Chronic allograft rejection

Chronic allograft rejection

63

Due to presence of pre-formed antibodies

Hyperacute rejection
Acute cellular rejection
Acute vascular rejection
Chronic allograft rejection

Hyperacute rejection

64

Mediated by activation of CD4 T cells which provide help for a CD8 T cell and B cell response and occurs within 1-4 weeks

Hyperacute rejection
Acute cellular rejection
Acute vascular rejection
Chronic allograft rejection

Acute cellular rejection

65

Which of the following vaccines are contraindicated in patients on immunosuppressive therapy?

Tetanus
BCG
Meningococcus
Measles
HiB
Diptheria
Polio
Pneumococcus
Yellow fever
Hepatitis B
Influenza
Hepatitis A

BCG
Measles
Polio - OK if used killed (Salk) vaccine
Yellow fever

66

A 58 year old pharmacist presents with a 3 month history of skin itching associated with lethargy and loss of energy.
Physical examination is normal, but liver function tests reveal:
Total bilirubin = 36umol/l (0-17umol/l)
ALT = 28U/l (0-31U/l)
Alkaline phosphatase 420U/l (30-130).

OPTION LIST
1. anti-acetyl choline receptor antibody
2. anti-adrenal cortex antibody
3. antibody to double stranded DNA
4. anti-centromere antibody
5. anti-TTG antibody
6. anti-intrinsic factor antibody
7. anti-mitochondrial antibody
8. anti-neutrophil cytoplasmic antibody
9. anti-RNP antibody
10. anti-smooth muscle antibody

7. anti-mitochondrial antibody

67

A 56 year old prison officer presents with a history of recurrent nose bleeds, haemoptysis and joint pain associated with profound lethargy.
On examination, he has crackles in his upper left lung field, and a cavitating left lung lesion is demonstrated on chest radiography.
Urine dipstick is positive for protein and blood.

OPTION LIST
1. anti-acetyl choline receptor antibody
2. anti-adrenal cortex antibody
3. antibody to double stranded DNA
4. anti-centromere antibody
5. anti-TTG antibody
6. anti-intrinsic factor antibody
7. anti-mitochondrial antibody
8. anti-neutrophil cytoplasmic antibody
9. anti-RNP antibody
10. anti-smooth muscle antibody

8. anti-neutrophil cytoplasmic antibody

68

A 22 year old woman presents with joint pain and fatigue. She has an intermittent, skin-sensitive rash, and also complains of mouth ulcers. Physical examination is otherwise normal.
Urine dipstick is positive ++ protein and ++ blood.
Full blood count shows a normocytic normochromic anaemia.

OPTION LIST
1. anti-acetyl choline receptor antibody
2. anti-adrenal cortex antibody
3. antibody to double stranded DNA
4. anti-centromere antibody
5. anti-TTG antibody
6. anti-intrinsic factor antibody
7. anti-mitochondrial antibody
8. anti-neutrophil cytoplasmic antibody
9. anti-RNP antibody
10. anti-smooth muscle antibody

3. antibody to double stranded DNA

69

A 30 year old plumber attends his GP complaining of feeling tired all the time. He has type I diabetes, which is currently well controlled, and a history of irritable bowel syndrome. A full blood count shows a microcytic hypochromic anaemia, and iron studies confirm iron deficiency. Vitamin D levels are within the insufficient range.

OPTION LIST
1. anti-acetyl choline receptor antibody
2. anti-adrenal cortex antibody
3. antibody to double stranded DNA
4. anti-centromere antibody
5. anti-TTG antibody
6. anti-intrinsic factor antibody
7. anti-mitochondrial antibody
8. anti-neutrophil cytoplasmic antibody
9. anti-RNP antibody
10. anti-smooth muscle antibody

5. anti-TTG antibody

70

A 44 year old builder presents with a history of fingers intermittently becoming very cold and white with recent development of a gangrenous tip of his finger. The skin over his fingers feels ‘tight’ and you note telangectasia on his hands.

OPTION LIST
1. anti-acetyl choline receptor antibody
2. anti-adrenal cortex antibody
3. antibody to double stranded DNA
4. anti-centromere antibody
5. anti-TTG antibody
6. anti-intrinsic factor antibody
7. anti-mitochondrial antibody
8. anti-neutrophil cytoplasmic antibody
9. anti-RNP antibody
10. anti-smooth muscle antibody

4. anti-centromere antibody

71

A 19 year old student presents with a chronic, extremely itchy rash consisting of papules and vesicles which is distributed symmetrically over the extensor surfaces of her elbows, legs and buttocks. You suspect dermatitis herpetiformis.

OPTION LIST
1. anti-acetyl choline receptor antibody
2. anti-adrenal cortex antibody
3. antibody to double stranded DNA
4. anti-centromere antibody
5. anti-TTG antibody
6. anti-intrinsic factor antibody
7. anti-mitochondrial antibody
8. anti-neutrophil cytoplasmic antibody
9. anti-RNP antibody
10. anti-smooth muscle antibody

6. anti-intrinsic factor antibody

72

Immunopathology

A. Reflects genetic abnormality affecting the innate immune system, often in a site-specific manner

B. Single gene mutation involving MEFV and affecting the inflammasome complex, resulting in recurrent episodes of serositis

C. May describe damage resulting from the immune response to ongoing infection

D. Reflects genetic abnormality affecting the adaptive immune system and is often associated with presence of auto-antibodies

E. Single gene mutation involving FOXp3 resulting in abnormality of T reg cells

C. May describe damage resulting from the immune response to ongoing infection

73

Auto-immune disease

A. Reflects genetic abnormality affecting the innate immune system, often in a site-specific manner

B. Single gene mutation involving MEFV and affecting the inflammasome complex, resulting in recurrent episodes of serositis

C. May describe damage resulting from the immune response to ongoing infection

D. Reflects genetic abnormality affecting the adaptive immune system and is often associated with presence of auto-antibodies

E. Single gene mutation involving FOXp3 resulting in abnormality of T reg cells

D. Reflects genetic abnormality affecting the adaptive immune system and is often associated with presence of auto-antibodies

74

Auto-inflammatory disease

A. Reflects genetic abnormality affecting the innate immune system, often in a site-specific manner

B. Single gene mutation involving MEFV and affecting the inflammasome complex, resulting in recurrent episodes of serositis

C. May describe damage resulting from the immune response to ongoing infection

D. Reflects genetic abnormality affecting the adaptive immune system and is often associated with presence of auto-antibodies

E. Single gene mutation involving FOXp3 resulting in abnormality of T reg cells

A. Reflects genetic abnormality affecting the innate immune system, often in a site-specific manner

75

Familial Mediterranean Fever

A. Reflects genetic abnormality affecting the innate immune system, often in a site-specific manner

B. Single gene mutation involving MEFV and affecting the inflammasome complex, resulting in recurrent episodes of serositis

C. May describe damage resulting from the immune response to ongoing infection

D. Reflects genetic abnormality affecting the adaptive immune system and is often associated with presence of auto-antibodies

E. Single gene mutation involving FOXp3 resulting in abnormality of T reg cells

B. Single gene mutation involving MEFV and affecting the inflammasome complex, resulting in recurrent episodes of serositis

76

IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X linked)

A. Reflects genetic abnormality affecting the innate immune system, often in a site-specific manner

B. Single gene mutation involving MEFV and affecting the inflammasome complex, resulting in recurrent episodes of serositis

C. May describe damage resulting from the immune response to ongoing infection

D. Reflects genetic abnormality affecting the adaptive immune system and is often associated with presence of auto-antibodies

E. Single gene mutation involving FOXp3 resulting in abnormality of T reg cells

E. Single gene mutation involving FOXp3 resulting in abnormality of T reg cells

77

Polygenic auto-inflammatory disease. ~30% patients have a mutation of CARD15 which may affect response of myeloid cells to bacteria.

Ankylosing spondylitis
Crohn’s disease
Giant cell arteritis

Crohn’s disease

78

Mixed pattern auto-inflammatory / auto-immune disease with >90% heritability that results in inflammation typically involving the sacro-iliac joints and responds to TNF alpha antagonists

Ankylosing spondylitis
Crohn’s disease
Giant cell arteritis

Ankylosing spondylitis

79

Polygenic auto-inflammatory disease resulting in a large vessel vasculitis and requiring immediate treatment with high dose corticosteroids

Ankylosing spondylitis
Crohn’s disease
Giant cell arteritis

Giant cell arteritis

80

HLA DR4

A. Tyrosine phosphatase expressed in lymphocytes associated with development of auto-immune disease including rheumatoid arthritis

B. MHC class II molecule that is associated with development of auto-immune disease including rheumatoid arthritis

C. Receptor for CD80/CD86, expressed on T cells, that influences T cell activation and is associated with auto-immune disease including diabetes and thyroid disease

D. Antigen presenting molecule that is strongly associated with development of Anti-GBM antibodies


B. MHC class II molecule that is associated with development of auto-immune disease including rheumatoid arthritis

81

PTPN22

A. Tyrosine phosphatase expressed in lymphocytes associated with development of auto-immune disease including rheumatoid arthritis

B. MHC class II molecule that is associated with development of auto-immune disease including rheumatoid arthritis

C. Receptor for CD80/CD86, expressed on T cells, that influences T cell activation and is associated with auto-immune disease including diabetes and thyroid disease

D. Antigen presenting molecule that is strongly associated with development of Anti-GBM antibodies


A. Tyrosine phosphatase expressed in lymphocytes associated with development of auto-immune disease including rheumatoid arthritis

82

HLA DR15

A. Tyrosine phosphatase expressed in lymphocytes associated with development of auto-immune disease including rheumatoid arthritis

B. MHC class II molecule that is associated with development of auto-immune disease including rheumatoid arthritis

C. Receptor for CD80/CD86, expressed on T cells, that influences T cell activation and is associated with auto-immune disease including diabetes and thyroid disease

D. Antigen presenting molecule that is strongly associated with development of Anti-GBM antibodies


D. Antigen presenting molecule that is strongly associated with development of Anti-GBM antibodies

83

CTLA4

A. Tyrosine phosphatase expressed in lymphocytes associated with development of auto-immune disease including rheumatoid arthritis

B. MHC class II molecule that is associated with development of auto-immune disease including rheumatoid arthritis

C. Receptor for CD80/CD86, expressed on T cells, that influences T cell activation and is associated with auto-immune disease including diabetes and thyroid disease

D. Antigen presenting molecule that is strongly associated with development of Anti-GBM antibodies


C. Receptor for CD80/CD86, expressed on T cells, that influences T cell activation and is associated with auto-immune disease including diabetes and thyroid disease

84

Recurrent infections with high neutrophil count on FBC but no abscess formation

IFN gamma receptor deficiency
Leukocyte adhesion deficiency
Chronic granulomatous disease
Kostmann syndrome

Leukocyte adhesion deficiency

85

Recurrent infections with hepatosplenomegaly and abnormal dihydrorhodamine test

IFN gamma receptor deficiency
Leukocyte adhesion deficiency
Chronic granulomatous disease
Kostmann syndrome

Chronic granulomatous disease

86

Recurrent infections with no neutrophils on FBC

IFN gamma receptor deficiency
Leukocyte adhesion deficiency
Chronic granulomatous disease
Kostmann syndrome

Kostmann syndrome

87

Infection with atypical mycobacterium. Normal FBC

IFN gamma receptor deficiency
Leukocyte adhesion deficiency
Chronic granulomatous disease
Kostmann syndrome

IFN gamma receptor deficiency

88

Severe recurrent infections from 3 months,CD4 and CD8 T cells absent, B cell present, IgM present, IgA and IgG absent

Bare lymphocyte syndrome type II
X-linked SCID
DiGeorge’s syndrome
IFN gamma receptor deficiency

X-linked SCID

89

Young adult with chronic infection with Mycobacterium marinum

Bare lymphocyte syndrome type II
X-linked SCID
DiGeorge’s syndrome
IFN gamma receptor deficiency

IFN gamma receptor deficiency

90

Recurrent infections in childhood, abnormal facial features, congenital heart disease, normal B cells, low T cells, low IgA and IgG

Bare lymphocyte syndrome type II
X-linked SCID
DiGeorge’s syndrome
IFN gamma receptor deficiency

DiGeorge’s syndrome

91

6 month baby with two recent serious bacterial infections. T cells present – but only CD8+ population. B cells present. IgM present but IgG absent

Bare lymphocyte syndrome type II
X-linked SCID
DiGeorge’s syndrome
IFN gamma receptor deficiency

Bare lymphocyte syndrome type II

92

Adult with bronchiectasis, recurrent sinusitis and development of atypical SLE

A. IgA deficiency

B. Common variable immunodeficiency

C. Bruton’s X linked hypogammaglobulinaemia

D. X linked hyper IgM syndrome due to CD40ligand mutation

B. Common variable immunodeficiency

93

Recurrent bacterial infections in a child, episode of pneumocystis pneumonia, high IgM, absent IgA and IgG

A. IgA deficiency

B. Common variable immunodeficiency

C. Bruton’s X linked hypogammaglobulinaemia

D. X linked hyper IgM syndrome due to CD40ligand mutation

D. X linked hyper IgM syndrome due to CD40ligand mutation

94

1 year old boy. Recurrent bacterial infections. CD4 and CD8 T cells present. B cells absent, IgG, IgA, IgM absent

A. IgA deficiency

B. Common variable immunodeficiency

C. Bruton’s X linked hypogammaglobulinaemia

D. X linked hyper IgM syndrome due to CD40ligand mutation

C. Bruton’s X linked hypogammaglobulinaemia

95

Recurrent respiratory tract infections, absent IgA, normal IgM and IgG

A. IgA deficiency

B. Common variable immunodeficiency

C. Bruton’s X linked hypogammaglobulinaemia

D. X linked hyper IgM syndrome due to CD40ligand mutation

A. IgA deficiency

96

Membranoproliferative nephritis and bacterial infections

A. C9 deficiency

B. C3 deficiency with presence of a nephritic factor

C. MBL deficiency

D. C1q deficiency

B. C3 deficiency with presence of a nephritic factor

97

Meningococcus meningitis with family history of sibling dying of same condition aged 6

A. C9 deficiency

B. C3 deficiency with presence of a nephritic factor

C. MBL deficiency

D. C1q deficiency

A. C9 deficiency

98

Severe childhood onset SLE with normal levels of C3 and C4

A. C9 deficiency

B. C3 deficiency with presence of a nephritic factor

C. MBL deficiency

D. C1q deficiency

D. C1q deficiency

99

Recurrent infections when receiving chemotherapy but previously well

A. C9 deficiency

B. C3 deficiency with presence of a nephritic factor

C. MBL deficiency

D. C1q deficiency

C. MBL deficiency

100

IFN alpha

A. Post-transplant lymphoproliferative disorder

B. Part of treatment for Hepatitis C

C. X linked hyper IgM syndrome

D. X linked SCID

E. Chronic granulomatous disease

F. Immunosuppressed seronegative individual after chicken pox exposure

B. Part of treatment for Hepatitis C

101

Bone marrow transplantation

A. Post-transplant lymphoproliferative disorder

B. Part of treatment for Hepatitis C

C. X linked hyper IgM syndrome

D. X linked SCID

E. Chronic granulomatous disease

F. Immunosuppressed seronegative individual after chicken pox exposure

D. X linked SCID

102

IFN gamma

A. Post-transplant lymphoproliferative disorder

B. Part of treatment for Hepatitis C

C. X linked hyper IgM syndrome

D. X linked SCID

E. Chronic granulomatous disease

F. Immunosuppressed seronegative individual after chicken pox exposure

E. Chronic granulomatous disease

103

EBV-specific CD8 T cells

A. Post-transplant lymphoproliferative disorder

B. Part of treatment for Hepatitis C

C. X linked hyper IgM syndrome

D. X linked SCID

E. Chronic granulomatous disease

F. Immunosuppressed seronegative individual after chicken pox exposure

A. Post-transplant lymphoproliferative disorder

104

Human normal immunoglobulin

A. Post-transplant lymphoproliferative disorder

B. Part of treatment for Hepatitis C

C. X linked hyper IgM syndrome

D. X linked SCID

E. Chronic granulomatous disease

F. Immunosuppressed seronegative individual after chicken pox exposure

C. X linked hyper IgM syndrome

105

Varicella zoster immunoglobulin

A. Post-transplant lymphoproliferative disorder

B. Part of treatment for Hepatitis C

C. X linked hyper IgM syndrome

D. X linked SCID

E. Chronic granulomatous disease

F. Immunosuppressed seronegative individual after chicken pox exposure

F. Immunosuppressed seronegative individual after chicken pox exposure

106

Cyclophosphamide

A. Osteoporosis

B. Infertility

C. Progressive multifocal leukoencephalopathy

D. Neutropenia particularly if TPMT low

E. Hypertension

B. Infertility

107

Prednisolone

A. Osteoporosis

B. Infertility

C. Progressive multifocal leukoencephalopathy

D. Neutropenia particularly if TPMT low

E. Hypertension

A. Osteoporosis

108

Azathioprine

A. Osteoporosis

B. Infertility

C. Progressive multifocal leukoencephalopathy

D. Neutropenia particularly if TPMT low

E. Hypertension

D. Neutropenia particularly if TPMT low

109

Cyclosporin

A. Osteoporosis

B. Infertility

C. Progressive multifocal leukoencephalopathy

D. Neutropenia particularly if TPMT low

E. Hypertension

E. Hypertension

110

Mycophenolate mofetil

A. Osteoporosis

B. Infertility

C. Progressive multifocal leukoencephalopathy

D. Neutropenia particularly if TPMT low

E. Hypertension

C. Progressive multifocal leukoencephalopathy

(Rituximab also does this)

111

Basiliximab (Anti-IL2 receptor)

A. Inhibits T cell migration but may only be used in highly active remitting/relapsing MS

B. Inhibits T cell activation and is effective in rheumatoid arthritis

C. Depletes B cells and is effective in treatment of B cell lymphomas and rheumatoid arthritis

D. Inhibits function of lymphoid and myeloid cells and used in management of rheumatoid arthritis

E. Antibody specific for CD25 which inhibits T cell activation and is used to prevent rejection

E. Antibody specific for CD25 which inhibits T cell activation and is used to prevent rejection

112

Abatacept (CTLA4-Ig fusion protein)

A. Inhibits T cell migration but may only be used in highly active remitting/relapsing MS

B. Inhibits T cell activation and is effective in rheumatoid arthritis

C. Depletes B cells and is effective in treatment of B cell lymphomas and rheumatoid arthritis

D. Inhibits function of lymphoid and myeloid cells and used in management of rheumatoid arthritis

E. Antibody specific for CD25 which inhibits T cell activation and is used to prevent rejection

B. Inhibits T cell activation and is effective in rheumatoid arthritis

113

Rituximab (Anti-CD20)

A. Inhibits T cell migration but may only be used in highly active remitting/relapsing MS

B. Inhibits T cell activation and is effective in rheumatoid arthritis

C. Depletes B cells and is effective in treatment of B cell lymphomas and rheumatoid arthritis

D. Inhibits function of lymphoid and myeloid cells and used in management of rheumatoid arthritis

E. Antibody specific for CD25 which inhibits T cell activation and is used to prevent rejection

C. Depletes B cells and is effective in treatment of B cell lymphomas and rheumatoid arthritis

114

Natalizumab (Anti- a4 integrin)

A. Inhibits T cell migration but may only be used in highly active remitting/relapsing MS

B. Inhibits T cell activation and is effective in rheumatoid arthritis

C. Depletes B cells and is effective in treatment of B cell lymphomas and rheumatoid arthritis

D. Inhibits function of lymphoid and myeloid cells and used in management of rheumatoid arthritis

E. Antibody specific for CD25 which inhibits T cell activation and is used to prevent rejection

A. Inhibits T cell migration but may only be used in highly active remitting/relapsing MS

(use restrictively due to risk of PML)

115

Tocilizumab (Anti-IL6 receptor)

A. Inhibits T cell migration but may only be used in highly active remitting/relapsing MS

B. Inhibits T cell activation and is effective in rheumatoid arthritis

C. Depletes B cells and is effective in treatment of B cell lymphomas and rheumatoid arthritis

D. Inhibits function of lymphoid and myeloid cells and used in management of rheumatoid arthritis

E. Antibody specific for CD25 which inhibits T cell activation and is used to prevent rejection

D. Inhibits function of lymphoid and myeloid cells and used in management of rheumatoid arthritis