Pathology Flashcards
1
Q
Osmolality
A
2(Na + K) + Urea + Glucose
2
Q
Anion Gap
A
Na + K - Cl - bicarb
Normal: 140 + 4.0 - 102 - 24 = 18
3
Q
pCO2 normal range
A
4 - 5 kPa
4
Q
Type 2 diabetes definition
A
Fasting glucose > 7.0 mM
GTT: 75g glucose given at time 0.
At 2hr, plasma glucose > 11.1 mM
5
Q
Impaired glucose tolerance
A
7.8 - 11.1 mM glucose 2hr after 75g glucose.
6
Q
Impaired fasting glucose
A
5.5 - 7.0 mM
7
Q
Normal ranges for different genders and ethnicities for: Hb MCV WBC Neutrophils lymphocytes eosinophils monocytes basophils platelets
A
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
Q
consequence of giving aspirin to children
A
reye syndrome - rash, vomiting, fatty liver, cerebral oedema, NO jaundice
9
Q
Haemophilia A
Investigations?
A
Factor VIII deficiency
normal PT, prolonged PTT
X-linked recessive
10
Q
Haemophilia B
Investigations?
A
Factor IX deficiency
normal PT, prolonged PTT
X-linked recessive
11
Q
Haemophilia C
A
Factor XI deficiency
Autosomal dominant
does NOT lead to bleeding in joints
12
Q
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
A
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
Q
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
A
Cyclophosphamide - B Prednisolone - A Azathioprine - D Cyclosporin - E Mycophenolate mofetil - C
14
Q
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
A
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
Q
Match diseases with drug and drug action:
Psoriasis
Rheumatoid arthritis
Osteoporosis
Crohn’s disease
- Ustekinumab or etanercept
- Infliximab
- Denosumab
- Adalimumab or tocilizumab
A. Inhibit RANK ligand
B. Inhibit IL12/23 or TNF alpha
C. Inhibit TNF alpha
D. Inhibit IL6 or TNF alpha
A
Psoriasis - 1B
Rheumatoid arthritis - 2C
Osteoporosis - 3A
Crohn’s disease - 4D
16
Q
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
A
B. Leukocyte adhesion deficiency
17
Q
Recurrent infections with hepatosplenomegaly and abnormal dihydrorhodamine test
A. IFN gamma receptor deficiency
B. Leukocyte adhesion deficiency
C. Chronic granulomatous disease
D. Kostmann syndrome
A
C. Chronic granulomatous disease
18
Q
Recurrent infections with no neutrophils on FBC
A. IFN gamma receptor deficiency
B. Leukocyte adhesion deficiency
C. Chronic granulomatous disease
D. Kostmann syndrome
A
D. Kostmann syndrome
19
Q
Infection with atypical mycobacterium. Normal FBC
A. IFN gamma receptor deficiency
B. Leukocyte adhesion deficiency
C. Chronic granulomatous disease
D. Kostmann syndrome
A
A. IFN gamma receptor deficiency
20
Q
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
A
B. X-linked SCID
21
Q
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
A
D. IFN gamma receptor deficiency
22
Q
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
A
C. DiGeorge’s syndrome
23
Q
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
A. Bare lymphocyte syndrome type II
24
Q
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
A
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
