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Y5 Immunology > Autoinflammatory and autoimmune > Flashcards

Autoinflammatory and autoimmune Flashcards

1
Q

Problems in monogenic autoinflammatory disease and examples

A

Single gene mutation in innate immune function
Abnormal signalling via cytokine pathways involving TNF / IL-1
Examples: Familial mediterranean fever (AR), TNF receptor associated protein syndrome (AD)

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2
Q

Familial Mediterranean Fever gene mutated? Clinical presentation? Treatment?

A

Autosomal recessive - MEFV gene - that encodes pyrin-manostrin

Pyrin-manostrin negatively regulates neutrophil activation (unregulated cyropyrin activation of neutrphils)

Periodic fevers of 48-96 hrs
Abdo pain (peritonitis)
Chest pain (pleurisy and pericarditis)
Arthritis
Rash

Complication AA amyloidosis - deposits in KIDNEY (proteinurea, nephrotic syndrome), liver, spleen

Bloods - raised CRP, raised serum AA, need genetic test for MEFV mutation

Tx - colchicine (disrupts neutrophil function), IL-1 R antagonist, TNFa inhibitor

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3
Q

Problem in monogenic autoimmune disease. Examples and where they affect

A

single gene mutation in adaptive immunity

Problems with T cell tolerance (APS1/APCED), T cell regulation (IPEX), lymphocyte apoptosis (ALPS)

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4
Q

APS1/APACED. What is the mutation, inheritance pattern, how does it cause autoimmunity. Clinical features

A

Autosomal recessive defect in AIRE (autoimmune regulator)
AIRE- TF in T cell tolerance - promotes auto-reactive T apoptosis. Defect -> autoreactive T/B cells

Multiple autoimmune- hypoPTH, addisons, hypoT4, DM, vitiligo, enteropathy.
Abs vs IL-17&IL-22 -> candidiasis

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5
Q

IPEX. What is the mutation, inheritance pattern, how does it cause autoimmunity. Clinical features

A

X-linked mutation in Foxp3 - required for development of Treg cells
Failure to neg reg T cell response, autoreactive B cells

Autoimmune disease - DM, hypoT4, enteropathy, dermatitis

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6
Q

ALPS. What is the mutation, inheritance pattern, how does it cause autoimmunity. Clinical features

A

Autosomal dominant mutation in FAS pathway e.g. TNFRSF6 that encodes Fas

Defect in lymphocyte apoptosis -> no tolerance

High lymphocyte count
CD4-CD8- T cells
Large spleen, lymph nodes
Autoimmune cytopenia
Lymphoma
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7
Q

What are some examples of some polygenic autoinflammatory condition. General mechanism

A

Crohns, UC, osteoarthritis, giant cell arteritis, Takayasu’s arteritis

Local factors at sites predisposed -> activation of innate immune cells i.e. macrophages and neutrophils with resulting tissue damage
Less strong HLA association

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8
Q

NOD2 role and associations

A

IBD1 gene on chromosome 16 identified as NOD2 (CARD-15)
NOD2 is expressed in cytoplasm of myeloid cells - macrophages, neutrophils, dendritic cells -> receptor that detects bacterial muramyl dipeptise and promotes clearance

Associated with Crohns risk mostly (also Blau syndrome, sarcoidosis)

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9
Q

Crohns factors leading to disease. clinical features, treatment

A

Epigenetic factors mRNAs + genetic mutation affecting innate immunity + intestinal microbiota + environmental factors smoking –> expression of pro-inflam cyto/chemokine + leukocyte recruitment + release of free radicals –> focal inflam in/around crypts, formaltion of granuloma, tissue damage with mucosal ulceration

Abdo pain, tenderess, diarrhoea w/ blood/pus/mucus, fevers, malaise

Corticosteroid, anti-TNFa Ab

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10
Q

Examples of mixed autoinflam, autoimmune disease

A

Axial spondyloarthritis
Psoriatic arthritis
Behcets syndrome

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11
Q

Axial spondyloarthritis/Anykylosing spondylitis genetic associations, where inflam occurs clinical presentation

A

HLA B27, IL23 receptor, IL receptor T2

Enhanced inflam at specific sites with high tensile forces - entheses, ligaments, tendons

Low back pain, stiffness, enthesitis, large joint arthritis

Tx - NSAIDS, immunosupression- anti-TNFa, anti-IL17

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12
Q

Genetic polymorphisms of T cell activation and which diseases they are associated with

A

PTPN22 - tyrosine phophatase that suppressed T cell activation - variants in Rh arth, SLE, T1DM

CTLA4 - receptor for CD80/CD86 that inhibits T cells - variants in SLE, T1DM, autoimmune thyroid disease

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13
Q

Graves: antigen, diagnosis and treatment

A

TSH receptor
Diagnosis: Anti-TSH receptor Ab
Treatment: Carbimazole and propylthiouracil

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14
Q

Hashimoto’s thyroiditis

A

Anti-thyroid peroxidase Abs
Anti-thryroglobulin Abs

Goitre - thyroid infiltrated by T and B cells

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15
Q

Pernicious anaemia: antigen, pathology, diagnosis and treatment

A

Intrinsic factor and gastric parietal cells

Macrocytic anaemia, low B12, normal folate

Anti-IF Ab, Anti Gastric parietal cell Ab, Schilling test

Dietary/IM B12

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16
Q

Myasthenia Gravis

A

Clinically: drooping eyelids, weakness esp on repetitive activity, Sx worse at night, double vision

Anti-ACh receptor Abs - important at post-synaptic membrane of motor cells-> fail to depolarise, absence of muscle action potential

Abnomal EMG, tensilon test

Tx - neostigmine, pyridostigmine, (IVIG, plasmaphoresis)

17
Q

Goodpastures disease: clin picture, diagnosis, treatment

A

Clinical: Haemoptysis with crackles, sidespread shadowing on CXR, haematuria + proteinurea, odoema, reduced urine output, increased creatinine, pulmonary haemorrhage

Anti-basement membrane Ab
Crescentic glomerulonephritis on biopsy
Linear smooth deposits of Ab on G BM

Corticosteroids and immunosupporession

18
Q

Rheumatoid arthritis clinical features, genetic and environmental predisposition, Abs/diagnosis, Tx

A

Pain, stiffness, swelling of multiple small hand joints, normochromic anaemia, high ESR/CRP

Genetic predisposition:

  • HLA DR4, HLADR1 alleles - bind arthritic peptides e.g. citrullinated peptide with high affinity
  • Peptidyl arginine deaminase (PAD) involed in creatting citrulline. type 2 and 4 polymorphisms -> increased citrullination -> increased load of citrullinated proteins
  • PTPN22 polymorphism

Environmental factors that increase citrullination:
Smoking
Gum infection with porphyromonas gingivlis (known to express PAD enzymes

Abs: Anti-CCP - bind to peptides citrullinated by PAD
RF - Ab against the common Fc region of human IgG
+ Raised ESR, CRP

Tx - analgesia, steroids, DMARDs

19
Q

SLE

A

Fatgiue, hair fall, mouth ulcers, butterfly rash, generalised arthralgia, particularly small joints of hands

Genetic predisp:

  • Abnormalities in clearance of apoptotic cells - genes encoding complement, MBL, CRP (intracellular debris from uncleared cells)
  • Abnormalities in activation - genes of cyto/chemokines, co-stim molecules or intracellular signalling molecules (B cell hyperactivity + loss of tolerance)
  • Antibodies for intracellular proteins form: Nuclear antigens (DNA histones, snRNP), cytoplasmic antigens (ribosome, snRNP)

Immune complexes: deposit in the skin, joints, kidneys, activate complement

Lupus nephritis: immune complex deposition, detection of granular ‘lumpy bumpy’ pattern with fluorosin sonjuygated anti-human Ig

Abs: ANA, anti-dsDNA, anti-ENA, anti-sm, anti-histone, anti-Ro, anti-La, anti-U1RNP
Check complement: C4 low. C3 low if severe

Analgesia, steroids, cyclophosphamine

20
Q

Anti-phospholipid syndrome

A

Recurrent venous or arterial thrombosis, miscarriage, livedo reticularis skin, cardiac valve defect

Abs:

  • Lupus anticoagulant - prolongation of phospholipid-dependent coagulation test
  • Anti-cardiolipin - Ab for neg charged phospholipids
  • Anti-B2 glycoprotein 1 - neg charged phospholipids
21
Q

Limited cutaneous systemic sclerosis features and antibody

A 
Skin involvement not beyond forearms
Calcinosis - Ca deposits in soft tissue
Raynauds
Eosophogoeal dysmotility
Sclerodactyly
Telangectasia
\+ primary pulmonary HTN

Anti-centromere Abs

22
Q

Diffuse cutaneous systemic sclerosis

A 
Skin involvement beyond forearms
Calcinosis, Raynauds, Esophogeal dysmotility, Sclerodacyly, Telangectasia
\+ More extensive GI disease
\+ Interstitial pulmonary disease
\+ Scleroderma renal crisis

Anti-topoisomerase Abs - Scl70
Anti-RNA polymerase I, II, III
Anti-Fibrillarin

23
Q

Idiopathic inflam myopathy symptoms and pathology

A

Weakness, malaise, rash

Dermatomyositis:
Perivascular CD4 T cells and B cells within muscle
Immune complex mediated vasculitis

Polymyositis:
CD8 T cells surround HLA class I expressing myofibres within muscle. Kill myofibres via perforin/granzymes

Abs: sometimes ANA
Anti-aminoacyl transfer RNA synthetase e.g. Jo-1 cytoplasmic
Anti-signal recognition peptide (nuclear and cytoplasmic) - polymyositis
Anti-Mi2 (nuclear) - dermato>polymyositis

24
Q

Examples of systemic vasculitis disease affecting large, medium and small vessels

A

Large: Takayasu arteritis, Giant cell/Temporal arteritis (polymyalgia rheumatica)

Medium: polyarteritis nodosa, Kowasaki disease

Small: ANCA associated - microscopic polyarteritis/polyangitis, eosinophilic granulomatosis with polyangitis (Churg-Strauss syndrome), granulomatosis with polyangitis (Wegener’s granulomatosis)

Mixed vessel: Behcets disease

25
Q

ANCA pathway leading to vasculitis. c vs p ANCA

A

Abs for Ags in granules in neutrophil cytoplasm. Inflam -> expression of Ag on neutrophil surface where Abs interact and activate neutrophils -> activated neutrophils damage endothelial cells/vessels

c-ANCA - cytoplasmic fluorescence

  • Abs to enzyme proteinase 3
  • granulomatous polyangitis

p-ANCA - perinuclear staining pattern

  • Abs to myeloperoxidase
  • microscopic polyangitis and eosinophilic granulomatous polyangitis
26
Q

Treating microscopic polyarteritis, eosinophilic granulomatosis with polyangitis (Churg-Strauss syndrome), granulomatosis with polyangitis (Wegener’s granulomatosis)

A

MPA - prednisolone, cyclophosphamine, azathioprine, plasmaphoresis

eGPA - prednisolone, azathioprime, cyclophophamine

GPA - corticosteroids, cyclophosphamide, co-trimoxazole

27
Q

Presentation of autoimmune thrombocytopenic purpura (ITP), antibodies and treatment

A

Bruising, bleeding, purpura

Anti-platelet Abs against Glycoprotein IIb/IIIa on platelets

Steroids, IVIG, Anti-D Ab, splenectomy

28
Q

MS disease, diagnosis, Tx

A

Demyelinating, perivascular inflammation, paralysis, ocular lesions

CSF shows oligoclonal bands of IgG on electrophoresis

Tx- corticosteroids, IFN-b

29
Q

Sjogrens syndrome

A

F>M, late 40s

Dry mouth, dry eyes, nose and skin
May affect kidneys, vessels, lungs, liver, pancreas, PNS
Parotid/salivary gland enlargement

Anti-Ro, anti-La

Y5 Immunology (4 decks)

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