Immuno Flashcards
(77 cards)
1
Q
Feature of Treg cells
A
CD25+ and Foxp3
2
Q
Reticular dysgenesis
A
AK2 mutation
Defect in haematopoietic stem cells –> ↓T cells, ↓B cells, ↓Neutrophils, ↓Monocyte/Macrophages, ↓RBC, ↓Platelets
Most severe form of SCID
3
Q
Kostmann syndrome
A
HAX1 mutation
Congenital neutropenia syndrome (autosomal recessive)
↓neutrophils, -ve NBT/DHR, no pus
4
Q
Cyclical neutropenia
A
Mutation in neutrophil elastase (ELA-2) Autosomal dominant Episodic neutropenia (every 4-6 weeks)
5
Q
Leukocyte adhesion deficiency
A
Mutation in CD18 (β2 integrin subunit)
↑neutrophilia (in blood), no pus
6
Q
Chronic granulamatous disease
A
NADPH oxidase deficiency –> absent respiratory burst
Excessive inflammation (ineffective neutrophil response)
Granuloma foramtion
Abnormal NBT/DHR test
7
Q
Tests for whether neutrophils can produce hydrogen peroxide (resp burst)
A
Nitroblue tetrazolium (NBT) test: normal turns blue, abnormal is yellow Dihydrorhodamine (DHR) flow cytometry test: normal is fluoresent
8
Q
IL-12 / receptor deficiency AND IFN-gamma / receptor deficiency
A
Macrophages interact with T cells via antigens OR cytokines
↑risk from mycobacteria
9
Q
Classical NK deficiency
A
Mutation in GATA2
10
Q
Functional NK deficiency
A
Mutation in FCGR3A
11
Q
Reticular dysgenesis
A
AK2 mutation
Defect in haematopoietic stem cells –> ↓T cells, ↓B cells, ↓Neutrophils, ↓Monocyte/Macrophages, ↓RBC, ↓Platelets
Most severe form of SCID
12
Q
X-linked SCID
A
Mutation in Foxp3 Mutation in common γ chain --> affects multiple cytokine receptors (T, NK development, Ig function) ↓↓T cells + NK cells or ↑B cells BUT ↓Igs Most common type of SCID
13
Q
ADA deficiency
A
Deficiency of ADA (adenosine deaminase) –> required for lymphocyte maturation
↓T cells
↓B cells
↓NK cells
14
Q
22q11.2 deletion syndrome (DiGeorge syndrome)
A
Deletion at 22q11.2 –> underdeveloped Thymus, Cleft palate, Underdevleoped parathyroids, Oseophageal atresia
↓T cells, ↓IgG
B cells, IgM
15
Q
Bare lymphocyte syndrome (Type 2)
A
Absence of MHC Class II molecules ↓CD4 T cells CD8 T cells B cells IgM ↓IgG, ↓IgA (CD4 required for GC reactions)
16
Q
Bare lymphocyte syndrome (Type 1)
A
Absence of MHC Class I molcules
↓CD8 T cells
17
Q
Bruton’s X-linked hypogammaglobulinaemia
A
Bruton's BTK gene Boys no B cells ↓B cells ↓Antibodies T cells Absent γpeak (all antibodies) on protein electrophoresis
18
Q
Hyper IgM syndrome
A
Mutation in CD40L (actually a T cell problem) --> no GC reaction B cells T cells ↑ IgM ↓IgG, ↓IgA, ↓IgE
19
Q
Common variable immune deficiency (CVID)
A
↓IgGAM B cells T cells Unkown cause Presents in Adults
20
Q
Selective IgA deficiency
A
Common (1 in 600)
2 in 3 –> asymptomatic
1 in 3 –> recurrent respiratory infections
↓IgA
21
Q
HIV antibodies
A
Anti-gp120
Anti-gp41
Anti-p24 (gag capsid)
22
Q
HAART is composed of
A
2 N-RTs + PI (or NNRTI)
23
Q
Define AIDS
A
CD4 count < 200 cells / ul blood
24
Q
Histology of immune rejection
A
Endothelial arteritis
Rupture of basement membrane
Inflammatory infiltrate with CD4, CD8 and Macrophages - cardial sign of rejection
Tubulitis
25
Basophilic strippling
#NAME?
26
Target cells = Codocytes
- -- Iron deficiency aenamia
- -- Thalassaemia
- -- Hyposplenism
27
Features of hyposplenism
Target cells
| Howell-Jolly bodies
28
Test for pancreatic insufficiency
Faecal elastase
29
Coealic disease is associated with which HLA
HLA-DQ2 and HLA-DQ8
30
Familial mediterranean fever
| Monogenic auto-inflammatory disease
```
Mutation in MEFV (encodes for Pyrin-Marenostrin)
Periodic fever
Peritonitis, Pericarditis, Arthritis
↑ risk of AA amyloidosis
Tx: Colchicine, Etanercept
```
31
APECED
| Monogenic autoimmune disease
Mutation in AIRE --> failure of central tolerance for T cells --> autoreactive T cells
Multiple autoimmune disease - Hypoparathyroidism, Addison's, Hypothyroidism, T1DM
Candidiasis
32
IPEX
| Monogenic autoimmune disease
X-linked --> mutation in Foxp3 --> failure of development of Treg cells --> auto-antibody formation
Presents with 3Ds: Diarrhoea (autoimmune enteropathy), Diabetes, Dermatitis
33
ALPS
| Monogenic autoimmune disease
Mutation in FAS pathway --> defect of apoptosis --> failure of tolerance (do not die when recognise self-antigen)
↑ Lymphocytes
Autoimmunedisease
Lymphoma
34
Crohn's disease
| Polygenic auto-inflammatory disease
Genetic polymorphisms in NOD2
35
Ankylosing spondylitis
| Mixed pattern disease
HLA-B27
Enthesitis, Sacroilitis (inflammation at sites of high tensile force)
Lower back pain, stiffness
Spinal fusion in vertebrae
36
Rheumatoid arthritis
| Polygenic auto-immune disease
HLA-DR4 polymorphisms
PTPN22 polymorphisms
CTLA4 polymorphisms
37
Type III hypersensitivity
Antibody binds soluble antigen --> immune complxes --> deposit --> inflammation
- ---- SLE (anti-dsDNA, ANA)
- --- Rheumatoid arthritis (Anti-CCP, Rheumatoid factor = Anti-IgG IgM)
38
Type IV hypersensitivity
CD8 T cells recognise auto-antigen presented on HLA Class I molecules --> cell lyiss
CD8 T cells recogniseauto-antigen presented on HLA Class I molecules --> activation --> inlfmamation --> cell dmaage
----- T1DM (β cell antigen)
----- MS (myelin basic protein, proteolipid protein)
39
Auto-antibody in Pemphigus vulgaris
Anti-epidermal cadherin antibody
40
Auto-antibody in Grave's disease (Type II)
Anti-TSH receptor antibody
41
Auto-antibody in Hashimoto's thyroidis (Type II and Type IV)
Anti-thyroid peroxidase antibodies (Anti-TPO antibodies)
| Anti-thyroglobulin antibodies (Anti-TG antibodies)
42
Auto-antibody in T1DM (Type IV)
Anti-islet cell antibody
Anti-insulin antibody
Anti-GAD antibody
Anti-IA-2 antibody (IA = islet antigen)
43
Auto-antibody in Pernicious anaemia (Type II)
Anti-IF antibody
| Anti-parietal cell antibody
44
Auto-antibody in M gravis (Type II)
Anti-nAChR antibody
| Weakness, worse with repetitive activity
45
Auto-antibody in Goodpasture's disease (Type II)
Anti-GBM antibody (against Type IV collagen)
Smooth linear deposition
Renal biopsy: Crescentic nephritis
46
Rheumatoid arthritis (Type II and Type III and Type IV)
```
Anti-CCP antibody - most specific for RhA
Rheumatoid factor (Anti-IgG IgM)
HLA-DR1 and HLA-DR4
PAD2 and PAD4 polymorphisms
PTPN 22 polymorphism
```
47
Lupus nephritis (Type III)
Immune complex deposition in GBM
| Granular lumpy bumpy pattern
48
Most specific anitbody for SLE
Anti-dsDNA - most specific for SLE
49
Anti-nuclear antibody (ANA) is composed of
Anti-dsDNA (SLE)
ENA
----- Anti-Ro, La, Sm, RNP (SLE - any, Ro La = Sjogrens)
----- Anti-Scl70 (diffuse cutaneous systemic sclerosis)
----- Anti-Centromere (limited cutaneous systemic sclerosis)
Cytoplasmic
---- Anti-Jo-1 (myositis)
---- Anti-mitochondrial antibodies (PBC)
50
Anti-dsDNA staining pattern
Homogenous staining (highlights nucleus)
51
Anti-ENA staining pattern
Speckled pattern (Ro, La, Sm, RNP, Scl70, Centromere)
52
Anti-phospholipid anitbodies
Anti-cardiolipin antibody
| Lupus anticoagulant
53
Limited vs Diffuse cutaneous systemic sclerosis
Limited SS
- CREST
- Skin involvement does NOT progress higher than forearms
- Anti-centromere
Diffuse SS
- CREST
- Skin involvement involves whole body
- Anti-Scl70
54
Dermatomyosis vs Polymyositis (Type IV)
Dermatomyositis = muscle + skin involvement
Polymyositis = muscle involvement ONLY
Sx - Heliotrope rash (periorbital), Gottern's papules
Anti-Jo antibodies
Anti-Mi2 antibodies
55
Granulomatous polyangiits (Wegener's granulomatosis)
c-ANCA (against proteinase 3)
56
Eosinophilic granulomatous polyangiits (Churg-Strauss syndrome)
and microscopic polyangiitis
p-ANCA (against myeloperoxidase)
57
Ipilimumab
Ab against CTLA4 --> ↑ T cell response
Tx for melanoma
CALL MUM --> IpiliMUMab CtALL4
58
Pembrolizumab
Ab against PD-1 --> ↑ T cell response
| Tx for melanoma
59
Anti-proliferative immunosuppressants
Cyclophosphamide
Mycophenolate mofetil
Azathioprine
MOA: ↓ DNA synthesis - celsl with rapid turnoever most sensitive
60
Cyclophosphamide
Alkylating agent
B cells > T cells
S/E: Haemorrhagic cystitis, PCP infection (Tx: septrin)
61
Azathioprine
Anti-metabolite
Metabolised to 6-mercaptopurine --> interferes with DNA synthesis
T cells > B cells
S/E: Bone marrow suppression - check TPMT activity first
62
Mycophenoalate mofetil
Anti-metabolite
Blocks de novo Guanosine nucleotide synthesis
T cells > B cells
S/E: PML (infection with JC virus)
63
Calcineurin inhibitors
Example: Ciclosporin, Tacrolimus
MOA: ↓ Calcineurin --> ↓ T cell activation
Useful in Transplant, Psoriasis, SLE
64
JAK inhibitors
Example: Tofacitinib
MOA: Interferes with JAK-STAT cytokine signalling --> ↓ Cytokine production
Useful for Rheumatoid arthritis
65
PDE4 inhibitors
Example: Apremilast
MOA: Inhibition of PDE4 --> ↑ cAMP --> ↓ Cytokine production
Useful for Psoriasis
Peddy Premi (PD4E inhibitor, Apremilast)
66
Anti-thymocyte globulin
MOA: Thymocytes injected into rabbit, then extract antibodies --> inject into human --> immunosupression on T cells
Useful for Transplantation
67
Basiliximab
MOA: Anti-CD25 antibody --> ↓ T cell proliferation
Useful for Transplantation
"25 leaves of basil"
68
Abatacept
MOA: CTLA4-Ig fusion protein against CD80 and CD86 --> ↓ T cell activation
Useful for Rheumatoid arthritis
69
Rituximab
MOA: Anti-CD20 antibody --> depletes B cells
| Useful for Lymphoma, RhA, SLE
70
Natalizumab
MOA: Antibody against α4 integrin --> ↓ transmigration of WBC
Useful for MS
"Nαtαlizumab"
71
Tocilizumab
MOA: Anti-IL-6 receptor antibody --> ↓ Macrophage, T cell, B cell, Neutrophil activation
Useful for Castleman's disease, Rheumatoid arthritis
Toc-IL-6-zumab
72
Anti-TNF-α antibodies
Example: Infliximab
| Useful for RhA, Ank Spond, Psoriasis, IBD
73
TNF α antagonists
Example: Etanercept
MOA: TNF-α receptor against to IgG Fc --> binds to TNF-α (decoy receptor)
Useful for RhA, Ank Spond, Psoriasis
74
Usteinumab
MOA: Antibody against IL-12 and IL-23
| Useful for Psoriasis, Crohn's disease
75
Guselkumab
MOA: Antibody against IL-23
| Useful for Psoriasis
76
Secukinumab
MOA: Antibody against IL-17 A
Useful for Psoriasis, Ank Spond
```
Secukin = 7
-umab = teen
Seven-teen = IL-17
```
77
Denosumab
MOA: Antibody against RANK-L --> ↓ bone resorption
| Useful for Osteoporosis
