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15_autoimmunity_transplantation.md

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Autoimmunity and Transplantation

Allergies are hyper immune response to foreign antigen.

Here we focus on immune reactions to self, bacteria and transplants.

Mechanics of self-tolerance

We try to screen out self-reactive lymphocytes during development but:

  • some weak interacting ones also respond to foreign antigens, so we need them
  • some just escape

Review of tolerance

Paul Ehrlich discovered / described autoimmunity in early 20th century. Named "horror autotoxicus".

Autoimmune conditions are actually on the rise + comprise ~5% of population.

How does immune system identify "self" in the first place?

Central tolerance:

  • broadly inactivation due to strong binding signals in thymus

Peripheral tolerance

  • Antigens presented from normal cell turnover
  • Not associated with cytokines or costim expression
  • Either the activated T cell does nothing or T_regs induced

More complete list of tolerance mechansims

  • Anergy (peripheral inactivation by signaling without inflammation or costims)
  • Central tolerance (deletion by negative selection)
  • T_regs (iT_reg/nT_reg, suppression in antigen or nonspecific way)
  • functional deviation direct differentiation into T_reg

We have some amount of autoreactive lymphocytes in the first place. Why?

  • positive selection requires loose binding to understand if MHC works
  • constant stimulation in periphery from loose interaction to keep cells alive

Central tolerance

Thymus epithelial cells and CD8\alpha+ DCs express antigen genes from elsewhere in the body (like insulin).

AIRE (autoimmune regulator) TF seems to cause this.

APECED -> disease of pancreas autoimmunity from deffective (Autoimmune Polyendocrinopathy-candidiasis-ectodermal dystroophy)

  • interaction with TLR - unmethylated CpG can be internalized by B cells and interact with internal TLRs
  • autoantibodies against DNA, chromatin + ribo
  • antigen amount - release of cardiac antigen following heart attack leads to immune response days later
  • antigen structure - IgG can crosslink B cells when it forms immune complexes

Priveleged sites

Brain, eye, testis, uterus

How do these sites reduce immune activity?

  • tissue barriers prevent lymphocytes from entering
  • TGF-\beta induces T_reg differentiation
  • Fas ligand

Sites source of autoimmune disease (MS): T cells activated elsewhere. Sympathetic Ophthalmia: trauma to one eye creates antigens that active T cells outside and allow them to come in (they are able to get through barrier somehow)

Autoimmune disease controlled by specific T cell types

different diseases depend on different T cell types type 1 diabetes mellitus - T_H1 psoriasis - T_H17

immune modulation

Involvement of T_regs

nT_reg - express FoxP3. Respond to self antigens specifically. iT_reg - develop in periphery in response to TGF-\beta. Not antigen specific.

Oral tolerance to antigen primarily caused by iT_reg generation

  • Normal levels of defective T_reg present in MS patients
  • Foxp3 negative (but IL-10 positive)

Autoimmune disease

Often involve multiple components of system.

Specific antigens cause disease

Antigen + adjuvant injected into animal elicits disease. But models are not faithful because we generally don't know how autoimmunity starts

Organ specific:

Hashimoto's thyroiditis Grave's disease

Systemic:

SLE Sjogren's syndrome

Commensal:

IBD - Chron's + UC

Involve different components of immune system

  • autoantibodies block receptors
  • immune complexes deposit + cause tissue damage
  • effector T cells cause inflammation + tissue damage

Antibody mediated disease can be transferred to newborns across placenta. Some can cause tissue damange before successful clearance of blood plasma with plasmapheresis.

Autoimmune disease with strong antibody component

Myasthenia gravis - acetylcholine receptor Graves' - TSH (thyroid stimulating hormone) receptor Thrombocytopenic purpura - platelets

Autoimmune disease mix all components of immune system

Examples. T cell mediated disease, like SLE + MS involve B cells (present antigen to T cell) and antibodies (generally around).

Antibody mediated disease involve T/B cell through antibody development (secretion + cross linking).

How do you get chronic disease?

Initial response to antigen straightforward enough.

Removal of the antigen in normal immunity usually causes effector cells to die off. In autoimmunity, either because of quantity or ubiquity, antigen always around.

How does the immune response amplify?:

  • Big component is the breakdown of "sequestration" by intial tissue damage.
  • More epitopes on same antigen are recognized (epitope spreading):
    • Hidden components (present in low concentrations) are efficiently presented by B cells
    • Additional molecules recruited with original epitope are internalized accidentally by B cells

Examples of epitope spreading:

  • SLE - B cell internalizes large DNA complex. Activates T cells for differnt pieces - histone pieces, ribosomal protein
  • Pemphigus vulgaris - binds to desmosomes and causes dissolution of skin tissue. Starts with harmless Dsg-3 antibodies but spreading eventually creates the kind causing deep skin blistering.

Autoimmune disease organized by response type

Like allergies, we first thought grouped by degree of active/inactive Becoming clear that similar to allergy re-classification - most of the immune components are involved in each response.

However we still classify based on antigen and main mechanism.

Classified based on antigen and main mechanism

  • Type 2 responses play almost no role in autoimmunity, exclusively atopy/allergy

Autoantibodies kill blood cells

  • Auto IgG and IgM bind to Fc and CR

  • Rapidly cleared by mononuclear-macrophage phagocytic system in spleen

  • or lysed by membrane attack complex of complement

  • Autoantibodies against surface proteins (eg. autoimmune thrombocytopenic purpura)

  • Nucleated blood cell lysis is less common but still happens

Tx strategies:

  • Removal of the spleen to prevent macrophage clearance is a common tx strategy
  • Also introduction of lots of nonspecific IgG (IVIG) - intravenous immunoglobulin.

Fixation of complement

  • Can directly lyse cells
  • Sublytic doses also causes problems:
  • cytokine release
  • respiratory burst
  • arachidonic acid cleavage

C5a itself is a chemokine

Nucleated cells are more resistant to complement lysis

Why?

In general, unnucleated cells lack metabolic machinery (mitochondria + nucleus) to make new proteins.

1/ Complement regulating surface proteins CD55 - DAF (decay-accelerating factor), accelerates C3 convertase decay CD59 - protectin (), binds c8/c9 components of membrane attack complex (MAC)

2/ Can repair some membrane damange caused by MAC

Autoantibodies block receptors

Examples of either:

Agonist (Grave's disease). Thyroid-stimulating hormone (TSH) from pituitary is controlled by thyroid hormone. Autoantibodies directly stimulate thyroid receptor and prevent negative feedback.

Antagonist (myasthenia gravis). Muscle contraction inhibited by autoantibody inhibition of nicotinic acetylcholine.

Autoantibodies cause damage in ECM

  • Goodpasture's syndrome - type IV (basement membrane) collagen in renal glomeruli and pulmonary alveoli

Immune complexes:

  • serum sickness (overwhlemed by immune complex)
  • bacterial endocarditis (lodged in cardiac valve, unable to kill source)
  • mixed essential cryoglobulinemia
  • SLE

SLE main steps:

1/ Autoantibodies against proteins in nucleated cells ( 3 types:

  • nucleosome subunits of chromatin
  • spliceosome
  • ribonucleoprotein complex ) 2/ Complexes traffic to renal glomerular basement membrane 3/ Poor clearance (due to dysfunction of complement proteins and lack of opsonization)

Cryoglobulins, soluble antibodies because of hydrophobic regions or clumping, that precipitate in joints/tissue.

T cells in autoimmunity

Hard to study because adoptive transfer in people require MHC matching

Culture requires the exact tissue from patient presenting problematic antigen

MS

Multiple sclerosis is a response against nervous system myelin angitens:

  • myelin basic protein MBP
  • proteolipid protein PLP
  • myelin oligodendrocyte glycoprotein MOG

These live on oligodendrocytes (support glial cell that maintain myelin sheath).

1/ Initial antigen stimulus 2/ BBB is "opened up". Epithelial cells lose tight junctures in response to inflammation and express adhesion molecules 3/ Rolling and entering (diapedesis) 4/ Re-encounter antigen

The plaques come from combination of demylenation and astrocyte proliferation / ECM production.

Genetic and Env Basis of Autoimmunity

Certainly genetic component

For whatever reason, female occurence higher

GWAS identifies causal variants

Classifying causaul variants

  • autoantigen availability or clearance
  • apoptosis (regulate immune response) (FAS)
  • signaling thresholds for T cell activation (PD-1 / CTLA-4).
  • cytokines
  • costims
  • T_regs (Foxp3 mutation)

Monogenic autoimmune disorders

T_reg:

  • Foxp3
  • CD25

Monogenic Fas mutations

Role of MHC in diabetes

HLA-DRX alleles linked to type 1 diabetes

Genetic linkage of DR3/DR4 to DQ\beta (the actual gene with offending polymorphism)

Actually great case study for the loose binding hypothesis for T cell development

TODO: revisit dual nature of autoreactive display

Two hypothesis for HLA mutation and diabetes

1/ Inability to induce self tolerance during negative selection (from DC presentation) 2/ Or inability to create slightly autoreactive T cells that pass positive selection (these slightly autoreactive T cells are then assumed to have a regulatory function?)

Chron's Disease

Think about layers of innate immunitity between commensal bacteria and inner layers of epithelia:

  • mucus from goblets
  • epithelial junction
  • antimicrobial peptides from Paneth cells
  • phagocytic macrophages
  • T_regs

With CD, you see dysfunction in one or more layers. Indirectly, this stimulates chronic T_H inflammation.

1/ NOD2 is an intracellular receptor that triggers inflammation (and release of antimicrobial granules in Paneth) 2/ CXCL8 dysfunction + lack of neutrophil accumulation 3/ Autophagy genes, ATG16L1 / IRGM, prevent clearance of swallowed microbes

Can also get upregulation of T_H response directly (eg. mutation in IL-23 for T_H17)

Non genetic covariates

  • Vitamin D levels (higher incidence of autoimmunity in Northern Hemisphere). Suppress T_H17 levels.
  • 'hygiene hypothesis' - exposure to microbes

Mechanism of infection inducing autoimmune reaction

General activation of lymphocytes from different (pathogenic) antigens Tissue damage released stored self antigens

Molecular mimicry can induce autoimmune disease from infection

  • Mice can develop diabetes after viral infection

Why are the self-reactive lymphocytes there?

  • Some escape deletion as described previously

  • Antigen present in much greater quantity activates these normally ignorant cells

  • Autoimmune hemolytic anemia follows Mycoplasma blood infection

  • Rheumatic fever. Similar epitopes of Streptococcus pyogenes to self leads to antibody + T cell mediated tissue damage, including heart valves + kidney

  • Lyme disease. Borrelia burgdorferi. Infection followed by Lyme arthritis.

Drugs

  • Procainamide, for heart arrhythmias, induces autoantibodies
  • Several lead to autoimmune hemolytic anemia
  • Heavy metals, gold + mercury (mostly through haptenization)

Stochastic cause

Precise timing of infection with chance lymphocyte clones might be all needed. The pathogen / antigen might be different but lead to same disease.

Alloantigens + Transplant Rejection

  • MHC mismatches almost always trigger a response
  • immunosuppression + transplantation medication helps
  • blood is less problematic because express small amounts of MHC I (and no II)
  • To avoid, antibody destruction, patients must be matched for ABO and Rh group antigens

Graft rejection is mediated by T cells

Basic terminology:

  • autograft - from same organism

  • syngeneic graft - from genetically identical organism

  • allograft - from different organism

  • acute rejection occurs 10-13 days after transplantation. (in contrast to hyperacute or chronic).

  • T cell role clear in lack of response in nude mice. Acute rejection can be stimulated in nude mice by adoptive transfer.

  • accelerated rejection occurs 6-8 days second time from clonal expansion of primed memory T cells

Rejection mostly caused by MHC mismatch

Actually origin of molecule name. Significant portion of T cell repertoire are reactive against nonself MHC

Immunosuppression makes MHC matching irrelevant for non bone marrow allografts (?).

Even HLA matched relatives experience rejection from non-MHC proteins.

Success in clinical transplants result of immunosuppression.

Minor histocompatibility antigens

The set of proteins that cause graft reactions that are not MHC are called minor histocompatibility antigens.

H-Y responses come from proteins on Y chromosome (eg. Smcy). Male anti-female response (but not vice versa)

Most are autosomal and have yet to be characterized.

Two ways of alloantigen presentation

1/ Donor origin APCs migrate to lymph tissue. Direct allorecognition Interestingly, migrating cells move through blood not lymphatics because solid organ allografts disrupt functioning lymph system.

2/ Uptake into recipient's own APCs. Indirect allorecognition. Key here is self MHC molecules do the presenting.

Hyperacute graft rejection from antibodies

Complement dependent reaction occurs in minutes

  • ABO-matching
  • cross matching - looking for reactivity against donor white blood cells

Antibodies occlude vessels connecting organ graft to rest of body, leading to purple color and enlarged state.

Some transplanted organs less susceptible to ABO incompat + cross-matching

  • \alpha-Gal, surface carbohydrate
  • hyperacute rejection occurs quickly with xenografts
  • exacerbated because complement regulatory proteins (DAF, CD59, etc.) work less efficiently across species boundaries

Why do allografts have an expiration date?

chronic allograft vasculopathy:

  • concentric arteriosclerosis
  • hypoperfusion (cut off nutrients, blood)

Caused by recurring rejection events by antibodies + T cells

Some specific examples of tissue destruction:

  • 'vanishing bile duct syndrome' in liver
  • 'bronciolitis obliterans', accumulation of scar tissue in bronchioles

Other examples of failure causes:

  • ischemia-reperfusion injury. Sudden blood flow can lead to tissue damage
  • viral infections from immmunosuppression
  • same disease in allograft as original organ

Organ transplants are now routine

Kidney first transplanted organ in 1950s (between twins).

  • Kidney (17.8K)
  • Liver (6.7K)
  • Heart (2.7K)

Cornea (45K HSC (20K)

Corneal transplants are particularly successful because of lack of vasculature: harder for lymphocytes to move around and react to antigens.

Organ availability Progression of same disease Immunosuppression can lead to infection or cancer

1/ More targeted immunosuppression that does not lead to cancer 2/ Graft tolerance 3/ Xenografts

Some autoimmune drugs

Cell surface antibodies

  • Rabbit anti-thymocyte globulin (rATG). Polyclonal molcules made in rabbits against human T cells.
  • anti-CD52 (alemtuzumab). Mature lymphocytes (eg. T / B / NK) marker for depletion.
  • anti-CD3 (muromonab). Binds to TCR-CD3 complex for depletion.
  • anti-CD25 (basiliximab). IL-2 mediated proliferation (proliferation/survival pathway).
  • CTLA-4-Ig Fusion (belatacept). CTLA-4 binds B7, competing with CD28 on T cells. Ig region is for stability of long half-life in blood.

Calcineurin inhibitors

  • Cyclosporine (CsA)
  • tacrolimus

Inhibit phosphatase required for nuclear translocation of NFAT. Recall calcium dependent serine phosphotase. TCR increases calcium concentrations in the cytoplasm.

mTOR inhibitors

  • Sirolimus (Rapamycin)

  • Downstream of IL-2/CD25 signaling

  • CD25 -> mTOR -> cyclin/CDK

Antiproliferative drugs

  • azathioprine. Inhibits purine synthesis, blocking replication
  • mycophenolate. Inosine monophosphate dehyrogenase

Corticosteroids

  • Prednisone

Think of major function as downregulating eg. IL-2, for proliferation

GVHD

  • Remove host T cells with chemo / radiation
  • Introduce marrow graft
  • Mature lymphocytes in donor marrow attack

Can be demonstrated with MLR

In leukemia patients, GVH is actually good for clearing cancerous lymphocytes graft-versus-leukemia effect

One strategy is donor T cell depletion. But can cause immunodefficiency + opportunistic infection if overboard. Also might be bad for GVHD.

Rather than depleting T cells, deplete the APCs. Still functional immunity. Graft-vs-leukemia more unclear.

T_regs

Supplementing CD25+ T_reg reduces symptoms or even prevents death from GVHD

(Though conventional T cells will express CD25 when activated, persistent high CD25 expression is a hallmark of T_reg.)

(Anergic T cells lack CD28 expression)

Why does the fetus not get rejected

  • physical separation of T cells from mother by trophoblast (placenta outer layer)
  • No MHC II + Limited MHC I on trophoblast
  • Nutrient depletion (IDO)
  • Regulatory cytokines - TGF-\beta + IL-10. (iT_res might have evolved from maternal tolerance) in environment
  • Stromal cells of decidua