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RW Pathology > Immuno > Flashcards

Immuno Flashcards

1
Q

Feature of Treg cells

A

CD25+ and Foxp3

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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

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3
Q

Kostmann syndrome

A

HAX1 mutation
Congenital neutropenia syndrome (autosomal recessive)
↓neutrophils, -ve NBT/DHR, no pus

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4
Q

Cyclical neutropenia

A 
Mutation in neutrophil elastase (ELA-2)
Autosomal dominant
Episodic neutropenia (every 4-6 weeks)
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5
Q

Leukocyte adhesion deficiency

A

Mutation in CD18 (β2 integrin subunit)

↑neutrophilia (in blood), no pus

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6
Q

Chronic granulamatous disease

A

NADPH oxidase deficiency –> absent respiratory burst
Excessive inflammation (ineffective neutrophil response)
Granuloma foramtion
Abnormal NBT/DHR test

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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
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8
Q

IL-12 / receptor deficiency AND IFN-gamma / receptor deficiency

A

Macrophages interact with T cells via antigens OR cytokines

↑risk from mycobacteria

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9
Q

Classical NK deficiency

A

Mutation in GATA2

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10
Q

Functional NK deficiency

A

Mutation in FCGR3A

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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

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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
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13
Q

ADA deficiency

A

Deficiency of ADA (adenosine deaminase) –> required for lymphocyte maturation
↓T cells
↓B cells
↓NK cells

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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

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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)
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16
Q

Bare lymphocyte syndrome (Type 1)

A

Absence of MHC Class I molcules

↓CD8 T cells

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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
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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
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19
Q

Common variable immune deficiency (CVID)

A 
↓IgGAM
 B cells
 T cells
Unkown cause
Presents in Adults
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20
Q

Selective IgA deficiency

A

Common (1 in 600)
2 in 3 –> asymptomatic
1 in 3 –> recurrent respiratory infections
↓IgA

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21
Q

HIV antibodies

A

Anti-gp120
Anti-gp41
Anti-p24 (gag capsid)

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22
Q

HAART is composed of

A

2 N-RTs + PI (or NNRTI)

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23
Q

Define AIDS

A

CD4 count < 200 cells / ul blood

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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

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25
Q

Basophilic strippling

A

NAME?

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26
Q

Target cells = Codocytes

A
  • – Iron deficiency aenamia
  • – Thalassaemia
  • – Hyposplenism
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27
Q

Features of hyposplenism

A

Target cells

Howell-Jolly bodies

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28
Q

Test for pancreatic insufficiency

A

Faecal elastase

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29
Q

Coealic disease is associated with which HLA

A

HLA-DQ2 and HLA-DQ8

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30
Q

Familial mediterranean fever

Monogenic auto-inflammatory disease

A 
Mutation in MEFV (encodes for Pyrin-Marenostrin)
Periodic fever
Peritonitis, Pericarditis, Arthritis
↑risk of AA amyloidosis
Tx: Colchicine, Etanercept
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31
Q

APECED

Monogenic autoimmune disease

A

Mutation in AIRE –> failure of central tolerance for T cells –> autoreactive T cells
Multiple autoimmune disease - Hypoparathyroidism, Addison’s, Hypothyroidism, T1DM
Candidiasis

32
Q

IPEX

Monogenic autoimmune disease

A

X-linked –> mutation in Foxp3 –> failure of development of Treg cells –> auto-antibody formation
Presents with 3Ds: Diarrhoea (autoimmune enteropathy), Diabetes, Dermatitis

33
Q

ALPS

Monogenic autoimmune disease

A

Mutation in FAS pathway –> defect of apoptosis –> failure of tolerance (do not die when recognise self-antigen)
↑Lymphocytes
Autoimmunedisease
Lymphoma

34
Q

Crohn’s disease

Polygenic auto-inflammatory disease

A

Genetic polymorphisms in NOD2

35
Q

Ankylosing spondylitis

Mixed pattern disease

A

HLA-B27
Enthesitis, Sacroilitis (inflammation at sites of high tensile force)
Lower back pain, stiffness
Spinal fusion in vertebrae

36
Q

Rheumatoid arthritis

Polygenic auto-immune disease

A

HLA-DR4 polymorphisms
PTPN22 polymorphisms
CTLA4 polymorphisms

37
Q

Type III hypersensitivity

A

Antibody binds soluble antigen –> immune complxes –> deposit –> inflammation

  • —- SLE (anti-dsDNA, ANA)
  • — Rheumatoid arthritis (Anti-CCP, Rheumatoid factor = Anti-IgG IgM)
38
Q

Type IV hypersensitivity

A

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
Q

Auto-antibody in Pemphigus vulgaris

A

Anti-epidermal cadherin antibody

40
Q

Auto-antibody in Grave’s disease (Type II)

A

Anti-TSH receptor antibody

41
Q

Auto-antibody in Hashimoto’s thyroidis (Type II and Type IV)

A

Anti-thyroid peroxidase antibodies (Anti-TPO antibodies)

Anti-thyroglobulin antibodies (Anti-TG antibodies)

42
Q

Auto-antibody in T1DM (Type IV)

A

Anti-islet cell antibody
Anti-insulin antibody
Anti-GAD antibody
Anti-IA-2 antibody (IA = islet antigen)

43
Q

Auto-antibody in Pernicious anaemia (Type II)

A

Anti-IF antibody

Anti-parietal cell antibody

44
Q

Auto-antibody in M gravis (Type II)

A

Anti-nAChR antibody

Weakness, worse with repetitive activity

45
Q

Auto-antibody in Goodpasture’s disease (Type II)

A

Anti-GBM antibody (against Type IV collagen)
Smooth linear deposition
Renal biopsy: Crescentic nephritis

46
Q

Rheumatoid arthritis (Type II and Type III and Type IV)

A 
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
Q

Lupus nephritis (Type III)

A

Immune complex deposition in GBM

Granular lumpy bumpy pattern

48
Q

Most specific anitbody for SLE

A

Anti-dsDNA - most specific for SLE

49
Q

Anti-nuclear antibody (ANA) is composed of

A

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
Q

Anti-dsDNA staining pattern

A

Homogenous staining (highlights nucleus)

51
Q

Anti-ENA staining pattern

A

Speckled pattern (Ro, La, Sm, RNP, Scl70, Centromere)

52
Q

Anti-phospholipid anitbodies

A

Anti-cardiolipin antibody

Lupus anticoagulant

53
Q

Limited vs Diffuse cutaneous systemic sclerosis

A

Limited SS

  • CREST
  • Skin involvement does NOT progress higher than forearms
  • Anti-centromere

Diffuse SS

  • CREST
  • Skin involvement involves whole body
  • Anti-Scl70
54
Q

Dermatomyosis vs Polymyositis (Type IV)

A

Dermatomyositis = muscle + skin involvement
Polymyositis = muscle involvement ONLY
Sx - Heliotrope rash (periorbital), Gottern’s papules
Anti-Jo antibodies
Anti-Mi2 antibodies

55
Q

Granulomatous polyangiits (Wegener’s granulomatosis)

A

c-ANCA (against proteinase 3)

56
Q

Eosinophilic granulomatous polyangiits (Churg-Strauss syndrome)
and microscopic polyangiitis

A

p-ANCA (against myeloperoxidase)

57
Q

Ipilimumab

A

Ab against CTLA4 –> ↑T cell response
Tx for melanoma
CALL MUM –> IpiliMUMab CtALL4

58
Q

Pembrolizumab

A

Ab against PD-1 –> ↑T cell response

Tx for melanoma

59
Q

Anti-proliferative immunosuppressants

A

Cyclophosphamide
Mycophenolate mofetil
Azathioprine
MOA: ↓DNA synthesis - celsl with rapid turnoever most sensitive

60
Q

Cyclophosphamide

A

Alkylating agent
B cells > T cells
S/E: Haemorrhagic cystitis, PCP infection (Tx: septrin)

61
Q

Azathioprine

A

Anti-metabolite
Metabolised to 6-mercaptopurine –> interferes with DNA synthesis
T cells > B cells
S/E: Bone marrow suppression - check TPMT activity first

62
Q

Mycophenoalate mofetil

A

Anti-metabolite
Blocks de novo Guanosine nucleotide synthesis
T cells > B cells
S/E: PML (infection with JC virus)

63
Q

Calcineurin inhibitors

A

Example: Ciclosporin, Tacrolimus
MOA: ↓Calcineurin –> ↓T cell activation
Useful in Transplant, Psoriasis, SLE

64
Q

JAK inhibitors

A

Example: Tofacitinib
MOA: Interferes with JAK-STAT cytokine signalling –> ↓Cytokine production
Useful for Rheumatoid arthritis

65
Q

PDE4 inhibitors

A

Example: Apremilast
MOA: Inhibition of PDE4 –> ↑cAMP –> ↓Cytokine production
Useful for Psoriasis
Peddy Premi (PD4E inhibitor, Apremilast)

66
Q

Anti-thymocyte globulin

A

MOA: Thymocytes injected into rabbit, then extract antibodies –> inject into human –> immunosupression on T cells
Useful for Transplantation

67
Q

Basiliximab

A

MOA: Anti-CD25 antibody –> ↓T cell proliferation
Useful for Transplantation
“25 leaves of basil”

68
Q

Abatacept

A

MOA: CTLA4-Ig fusion protein against CD80 and CD86 –> ↓T cell activation
Useful for Rheumatoid arthritis

69
Q

Rituximab

A

MOA: Anti-CD20 antibody –> depletes B cells

Useful for Lymphoma, RhA, SLE

70
Q

Natalizumab

A

MOA: Antibody against α4 integrin –> ↓transmigration of WBC
Useful for MS

“Nαtαlizumab”

71
Q

Tocilizumab

A

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
Q

Anti-TNF-αantibodies

A

Example: Infliximab

Useful for RhA, Ank Spond, Psoriasis, IBD

73
Q

TNF αantagonists

A

Example: Etanercept
MOA: TNF-αreceptor against to IgG Fc –> binds to TNF-α(decoy receptor)
Useful for RhA, Ank Spond, Psoriasis

74
Q

Usteinumab

A

MOA: Antibody against IL-12 and IL-23

Useful for Psoriasis, Crohn’s disease

75
Q

Guselkumab

A

MOA: Antibody against IL-23

Useful for Psoriasis

76
Q

Secukinumab

A

MOA: Antibody against IL-17 A
Useful for Psoriasis, Ank Spond

Secukin = 7
-umab = teen
Seven-teen = IL-17
77
Q

Denosumab

A

MOA: Antibody against RANK-L –> ↓bone resorption

Useful for Osteoporosis

RW Pathology (9 decks)

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