Immunology Diseases

Autoimmune Polyendocrine Syndrome Type 1 (APECED) no negative selection, autoimmune disease where endocrine
organs are damaged
Ankylosing Spondyllitis associated with HLA allele B27
Rheumatoid Arthritis associated with HLA allele DR4
Inslin-dependent Diabetes Mellitus associated with HLA allele DR3/DR4
Acute Rejection begins after a few days CD8 T cells react against alloantigens in the graft can be prevented by
immunosuppressive therapy
Chronic Rejection occurs months/years after, due to fibrosis of graft
Hyperacute graft rejection caused by circulating preformed antibodies against graft cells Type II Hypersensitivity
Autoimmune Hemolytic Anemia autoantibodies formed against RBCs, which are destroyed by complement
Autoimmune Thrombocytopenia autoantibodies against platelets platelets opsonized by IgG antibodies, removed by
macrophages
Goodpastures Syndrome IgG autoantibodies formed against glomerular and alveolar basement membranes
Myasthenia Gravis autoantibodies against acetylcholine receptor at neuromuscular junctions block the receptor,
which inhibits nerve impulses results in severe weakness antibody acting as antagonist
Graves Disease autoantibodies against TSH receptor turns on receptor constitutively continuous stimulation of
thyroid gland, leading to excess T3/T4 and hyperthyroidism antibody acting as agonist
Post-Streptococcal Glomerulonephritis anti-strep antibody combines with strep antigen, deposits in glomerular wall
Serum Sickness antibodies to foreign serum (horse/mouse), result in complexes depositing in various tissues
Systemic Lupus Erythematosus autoantibodies against nuclear components of body, particularly DNA deposit in
many tissues (skin, joints, kidneys)
Drug Reactions antibodies form against drug, deposit into tissues
Arthus Reaction localized Type III hypersensitivity i.e. inoculation sites, hypersensitivity pneumonitis (repeated
exposure causes high circulating IgG levels, results in Arthus reaction in lung)
Contact Dermatitus antigens penetrate skin, processed by dendritic Langerhans cells, presented to T cells in the lymph
nodes edema of epidermis
Mantoux Reaction when TB/PPD is injected into skin of patient with previous immune response to tuberculosis
redness, raised skin at site of injection
Agranulocytosis almost complete absence of polymononuclear cells
Chronic Granulomatous Disease PMN can phagocytose, but intracellular killing mechanism is defective defect is in
NADPH oxidase, needed for cytochrome B which produces superoxide anion in phagocytes
- recurrent bacterial/fungal infections
- can result in granulomas mass of activated macrophages
Leukocyte Adhesion Deficiency defect in LFA-1/adhesion molecules leukocytes can not adhere to endothelium, CD8
cells can not bind to their target cells, and neutrophil action is impaired results in recurrent bacterial infection and
impaired wound healing
Chediak-Higashi Syndrome phagocyte vesicle fusion results in giant vesicles, impairment of endosome-lysosome
fusion gene defect unknown, causes recurrent bacterial infections
X-linked Agammaglobulinemia (Brutons) defect in tyrosine kinase, which leads to failure of differentiation from pre-B
cells means no germinal centers, no mature B cells pre-B cell count is normal treated with IVIG occurs in males
IgA Deficiency common disorder, many patients have no symptoms, others with respiratory/gastrointestinal infections
associated with IgG2/IgG4 deficiencies
X-linked Hyper IgM Syndrome defect in CD40 (B cell), CD40L (T cell), or AID result in inability to class switch only IgM
and IgD are produced results in poorly developed germinal centers, recurrent infections treat with IVIG
- defect on T cell side also affects inflammatory response, since they can not interact with macrophages
Transient Hypogammaglobulinemia of Infancy delayed onset of Ig production, initially protected by maternal IgG
Common Variable Immunodeficiency defect of terminal differentiation of B cells to plasma cells treat with IVIG
DiGeorge Syndrome lack of thymus, no mature T cells (no differentiation) deletion on chromosome 22
- CATCH 22 Cardiac problems, Abnormal face, Thymic hypoplasia, Cleft palate, Hypocalcemia (absent
parathyroid gland), chromosome 22
T Cell Activation Defects CD3 defect, signal transduction defects, cytokine defects, IL-2R defects, etc
Severe Combined Immunodeficiency many variants treat with stem cell transplantation
- defective IL-2 receptor
- ADA deficiency
- Bare lymphocyte syndrome no HLA molecules on cell
- ZAP70 defects (signal transduction goes bad)
Wiskott-Aldrich Syndrome X-linked, more common in males smaller than normal lymphocytes, recurrent infections
thrombocytopenia (low platelet count), eczema (allergic skin reaction)
Ataxia Telangiectasia funny gait red spiders on skin defect in DNA repair
AIDS gp120 binds to CD4 molecule on T cell, and gp41 binds to chemokine receptor CCR5 uses connections to fuse
with plasma membrane of cell rapid drop in CD4+ cells (from CD8 killing, apoptosis, destruction of lymph nodes)
- diagnosis 1) presence of HIV antibody, 2) reversal of CD4:CD8 ratio, 3) HIV RNA serum levels